Canonical Allele Identifier: CA1140886424

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34785018T= , CM000663.2:g.34785018T=	GRCh38
NC_000001.10:g.35250619T= , CM000663.1:g.35250619T=	GRCh37
NC_000001.9:g.35023206T=	NCBI36
NG_008309.1:g.8830T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.256T= (GJB3) MANE Select	ENSP00000362464.2:p.Cys86=
ENST00000373362.3:c.256T= (GJB3)	ENSP00000362460.3:p.Cys86=
ENST00000373366.2:c.256T= (GJB3)	ENSP00000362464.2:p.Cys86=
ENST00000426886.1:c.208-66609A= (SMIM12)	ENSP00000429902.1:n.208-66609A=
NM_001005752.1:c.256T= (GJB3)	NP_001005752.1:p.Cys86=
NM_024009.2:c.256T= (GJB3)	NP_076872.1:p.Cys86=
XR_947179.1:n.1001+13353A=
XR_001737967.1:n.1023+13353A=
NM_024009.3:c.256T= (GJB3) MANE Select	NP_076872.1:p.Cys86=
NM_001005752.2:c.256T= (GJB3)	NP_001005752.1:p.Cys86=