ClinVar

NM_013275.6(ANKRD11):c.543C>T (p.Ala181=)

Gene:

ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89290683 (on Assembly GRCh38)
• Chr16: 89357091 (on Assembly GRCh37)

Preferred name:

NM_013275.6(ANKRD11):c.543C>T (p.Ala181=)

HGVS:

• NC_000016.10:g.89290683G>A
• NG_032003.1:g.204879C>T
• NG_032003.2:g.204879C>T
• NM_001256182.2:c.543C>T
• NM_001256183.2:c.543C>T
• NM_013275.6:c.543C>TMANE SELECT
• NP_001243111.1:p.Ala181=
• NP_001243112.1:p.Ala181=
• NP_037407.4:p.Ala181=
• NC_000016.9:g.89357091G>A
• NM_013275.4:c.543C>T
• NM_013275.5:c.543C>T
• NR_045839.2:n.1374C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367937349

NCBI 1000 Genomes Browser:

rs367937349

Molecular consequence:

• NR_045839.2:n.1374C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001256182.2:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001256183.2:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013275.6:c.543C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1