Canonical Allele Identifier: CA137663

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34785560C>T , CM000663.2:g.34785560C>T	GRCh38
NC_000001.10:g.35251161C>T , CM000663.1:g.35251161C>T	GRCh37
NC_000001.9:g.35023748C>T	NCBI36
NG_008309.1:g.9372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.798C>T (GJB3) MANE Select	ENSP00000362464.2:p.Asn266=
ENST00000373362.3:c.798C>T (GJB3)	ENSP00000362460.3:p.Asn266=
ENST00000373366.2:c.798C>T (GJB3)	ENSP00000362464.2:p.Asn266=
ENST00000426886.1:c.208-67151G>A (SMIM12)	ENSP00000429902.1:n.208-67151G>A
NM_001005752.1:c.798C>T (GJB3)	NP_001005752.1:p.Asn266=
NM_024009.2:c.798C>T (GJB3)	NP_076872.1:p.Asn266=
XR_947179.1:n.1001+12811G>A
XR_001737967.1:n.1023+12811G>A
NM_024009.3:c.798C>T (GJB3) MANE Select	NP_076872.1:p.Asn266=
NM_001005752.2:c.798C>T (GJB3)	NP_001005752.1:p.Asn266=