Canonical Allele Identifier: CA1162033190

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784822C= , CM000663.2:g.34784822C=	GRCh38
NC_000001.10:g.35250423C= , CM000663.1:g.35250423C=	GRCh37
NC_000001.9:g.35023010C=	NCBI36
NG_008309.1:g.8634C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.60C= (GJB3) MANE Select	ENSP00000362464.2:p.Phe20=
ENST00000373362.3:c.60C= (GJB3)	ENSP00000362460.3:p.Phe20=
ENST00000373366.2:c.60C= (GJB3)	ENSP00000362464.2:p.Phe20=
ENST00000426886.1:c.208-66413G= (SMIM12)	ENSP00000429902.1:n.208-66413G=
NM_001005752.1:c.60C= (GJB3)	NP_001005752.1:p.Phe20=
NM_024009.2:c.60C= (GJB3)	NP_076872.1:p.Phe20=
XR_947179.1:n.1001+13549G=
XR_001737967.1:n.1023+13549G=
NM_024009.3:c.60C= (GJB3) MANE Select	NP_076872.1:p.Phe20=
NM_001005752.2:c.60C= (GJB3)	NP_001005752.1:p.Phe20=