Canonical Allele Identifier: CA16617140

Linked Data

ClinVar Variation Id: 421156
ClinVar RCV Id: RCV000481997
dbSNP Id: rs1064794946

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784872T>A , CM000663.2:g.34784872T>A GRCh38
NC_000001.10:g.35250473T>A , CM000663.1:g.35250473T>A GRCh37
NC_000001.9:g.35023060T>A NCBI36
NG_008309.1:g.8684T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373366.3:c.110T>A (GJB3) MANE Select ENSP00000362464.2:p.Val37Glu
ENST00000373362.3:c.110T>A (GJB3) ENSP00000362460.3:p.Val37Glu
ENST00000373366.2:c.110T>A (GJB3) ENSP00000362464.2:p.Val37Glu
ENST00000426886.1:c.208-66463A>T (SMIM12) ENSP00000429902.1:n.208-66463A>T
NM_001005752.1:c.110T>A (GJB3) NP_001005752.1:p.Val37Glu
NM_024009.2:c.110T>A (GJB3) NP_076872.1:p.Val37Glu
XR_947179.1:n.1001+13499A>T
XR_001737967.1:n.1023+13499A>T
NM_024009.3:c.110T>A (GJB3) MANE Select NP_076872.1:p.Val37Glu
NM_001005752.2:c.110T>A (GJB3) NP_001005752.1:p.Val37Glu