Canonical Allele Identifier: CA1162031867

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781630C= , CM000663.2:g.34781630C=	GRCh38
NC_000001.10:g.35247231C= , CM000663.1:g.35247231C=	GRCh37
NC_000001.9:g.35019818C=	NCBI36
NG_008309.1:g.5442C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-174C= (GJB3) MANE Select	ENSP00000362464.2:n.-174C=
ENST00000373366.2:c.-174C= (GJB3)	ENSP00000362464.2:n.-174C=
ENST00000426886.1:c.208-63221G= (SMIM12)	ENSP00000429902.1:n.208-63221G=
NM_024009.2:c.-174C= (GJB3)	NP_076872.1:n.-174C=
XR_947179.1:n.1001+16741G=
XR_001737967.1:n.1023+16741G=
NM_024009.3:c.-174C= (GJB3) MANE Select	NP_076872.1:n.-174C=