Canonical Allele Identifier: CA1659501546

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447133G= , CM000668.2:g.121447133G=	GRCh38
NC_000006.11:g.121768279G= , CM000668.1:g.121768279G=	GRCh37
NC_000006.10:g.121809978G=	NCBI36
NG_008308.1:g.16535G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.286G= MANE Select	ENSP00000282561.3:p.Val96=
ENST00000647564.1:c.286G=	ENSP00000497565.1:p.Val96=
ENST00000649003.1:c.286G=	ENSP00000497283.1:p.Val96=
ENST00000650427.1:c.286G=	ENSP00000497367.1:p.Val96=
ENST00000282561.3:c.286G=	ENSP00000282561.3:p.Val96=
NM_000165.4:c.286G=	NP_000156.1:p.Val96=
NM_000165.5:c.286G= MANE Select	NP_000156.1:p.Val96=