Canonical Allele Identifier: CA137661

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34785351G>A , CM000663.2:g.34785351G>A	GRCh38
NC_000001.10:g.35250952G>A , CM000663.1:g.35250952G>A	GRCh37
NC_000001.9:g.35023539G>A	NCBI36
NG_008309.1:g.9163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.589G>A (GJB3) MANE Select	ENSP00000362464.2:p.Val197Ile
ENST00000373362.3:c.589G>A (GJB3)	ENSP00000362460.3:p.Val197Ile
ENST00000373366.2:c.589G>A (GJB3)	ENSP00000362464.2:p.Val197Ile
ENST00000426886.1:c.208-66942C>T (SMIM12)	ENSP00000429902.1:n.208-66942C>T
NM_001005752.1:c.589G>A (GJB3)	NP_001005752.1:p.Val197Ile
NM_024009.2:c.589G>A (GJB3)	NP_076872.1:p.Val197Ile
XR_947179.1:n.1001+13020C>T
XR_001737967.1:n.1023+13020C>T
NM_024009.3:c.589G>A (GJB3) MANE Select	NP_076872.1:p.Val197Ile
NM_001005752.2:c.589G>A (GJB3)	NP_001005752.1:p.Val197Ile