Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA387461195

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 553209

ClinVar RCV Id: RCV002531202

dbSNP Id: rs1555341907

MyVariant Identifiers: chr13:g.20763306T>A (hg19) chr13:g.20189167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189167T>A , CM000675.2:g.20189167T>A	GRCh38
NC_000013.10:g.20763306T>A , CM000675.1:g.20763306T>A	GRCh37
NC_000013.9:g.19661306T>A	NCBI36
NG_008358.1:g.8809A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.415A>T	ENSP00000372295.1:p.Ser139Cys
ENST00000382848.5:c.415A>T MANE Select	ENSP00000372299.4:p.Ser139Cys
ENST00000382844.1:c.415A>T	ENSP00000372295.1:p.Ser139Cys
ENST00000382848.4:c.415A>T	ENSP00000372299.4:p.Ser139Cys
NM_004004.5:c.415A>T	NP_003995.2:p.Ser139Cys
XM_011535049.1:c.415A>T	XP_011533351.1:p.Ser139Cys
XM_011535049.2:c.415A>T	XP_011533351.1:p.Ser139Cys
NM_004004.6:c.415A>T MANE Select	NP_003995.2:p.Ser139Cys