ClinVar

NM_000487.6(ARSA):c.636C>T (p.Ala212=)

Gene:

ARSA:arylsulfatase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50626882 (on Assembly GRCh38)
• Chr22: 51065310 (on Assembly GRCh37)

Preferred name:

NM_000487.6(ARSA):c.636C>T (p.Ala212=)

HGVS:

• NC_000022.11:g.50626882G>A
• NG_009260.2:g.6298C>T
• NM_000487.6:c.636C>TMANE SELECT
• NM_001085425.3:c.636C>T
• NM_001085426.3:c.636C>T
• NM_001085427.3:c.636C>T
• NM_001085428.3:c.378C>T
• NM_001362782.2:c.378C>T
• NP_000478.3:p.Ala212=
• NP_001078894.2:p.Ala212=
• NP_001078895.2:p.Ala212=
• NP_001078896.2:p.Ala212=
• NP_001078897.1:p.Ala126=
• NP_001349711.1:p.Ala126=
• NC_000022.10:g.51065310G>A
• NM_000487.5:c.636C>T
• NP_000478.3:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs200182983

NCBI 1000 Genomes Browser:

rs200182983

Molecular consequence:

• NM_000487.6:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001085425.3:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001085426.3:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001085427.3:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001085428.3:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362782.2:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2