Canonical Allele Identifier: CA118303
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

ClinVar Variation Id: 6483
ClinVar RCV Id: RCV000006856 RCV002512854
dbSNP Id: rs74315316
MyVariant Identifiers: chr1:g.35250398G>A (hg19) chr1:g.34784797G>A (hg38)
PubMed: PMID:9843209
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784797G>A , CM000663.2:g.34784797G>A GRCh38
NC_000001.10:g.35250398G>A , CM000663.1:g.35250398G>A GRCh37
NC_000001.9:g.35022985G>A NCBI36
NG_008309.1:g.8609G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373366.3:c.35G>A (GJB3) MANE Select ENSP00000362464.2:p.Gly12Asp
ENST00000373362.3:c.35G>A (GJB3) ENSP00000362460.3:p.Gly12Asp
ENST00000373366.2:c.35G>A (GJB3) ENSP00000362464.2:p.Gly12Asp
ENST00000426886.1:c.208-66388C>T (SMIM12) ENSP00000429902.1:n.208-66388C>T
NM_001005752.1:c.35G>A (GJB3) NP_001005752.1:p.Gly12Asp
NM_024009.2:c.35G>A (GJB3) NP_076872.1:p.Gly12Asp
XR_947179.1:n.1001+13574C>T
XR_001737967.1:n.1023+13574C>T
NM_024009.3:c.35G>A (GJB3) MANE Select NP_076872.1:p.Gly12Asp
NM_001005752.2:c.35G>A (GJB3) NP_001005752.1:p.Gly12Asp
Search 100 bp 5'
Search 100 bp 3'