Canonical Allele Identifier: CA1659501648

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447428A= , CM000668.2:g.121447428A=	GRCh38
NC_000006.11:g.121768574A= , CM000668.1:g.121768574A=	GRCh37
NC_000006.10:g.121810273A=	NCBI36
NG_008308.1:g.16830A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.581A= MANE Select	ENSP00000282561.3:p.His194=
ENST00000647564.1:c.581A=	ENSP00000497565.1:p.His194=
ENST00000649003.1:c.581A=	ENSP00000497283.1:p.His194=
ENST00000650427.1:c.581A=	ENSP00000497367.1:p.His194=
ENST00000282561.3:c.581A=	ENSP00000282561.3:p.His194=
NM_000165.4:c.581A=	NP_000156.1:p.His194=
NM_000165.5:c.581A= MANE Select	NP_000156.1:p.His194=