ClinVar

NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)

Gene:

GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58854541 (on Assembly GRCh38)
• Chr20: 57429596 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)

HGVS:

• NC_000020.11:g.58854541G>C
• NG_016194.2:g.19802G>C
• NG_021433.1:g.1363C>G
• NG_143671.1:g.51G>C
• NM_000516.7:c.-37186G>CMANE SELECT
• NM_001077490.3:c.1089G>C
• NM_001309861.2:c.-39+12666G>C
• NM_001309883.1:c.1089G>C
• NM_001410912.1:c.43+13655G>C
• NM_001410913.1:c.1276G>C
• NM_016592.5:c.*42+13655G>C
• NM_080425.4:c.1276G>C
• NP_001070958.1:p.Ser363=
• NP_001296812.1:p.Ser363=
• NP_001397842.1:p.Ala426Pro
• NP_536350.2:p.Ala426Pro
• LRG_1051:g.1363C>G
• NC_000020.10:g.57429596G>C
• NM_080425.2:c.1276G>C
• NM_080425.3:c.1276G>C

This HGVS expression did not pass validation

Protein change:

A426P

Links:

dbSNP: rs767104257

NCBI 1000 Genomes Browser:

rs767104257

Molecular consequence:

• NM_000516.7:c.-37186G>C - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001309861.2:c.-39+12666G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+13655G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+13655G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410913.1:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077490.3:c.1089G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309883.1:c.1089G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1