Canonical Allele Identifier: CA1659501577

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447226T= , CM000668.2:g.121447226T=	GRCh38
NC_000006.11:g.121768372T= , CM000668.1:g.121768372T=	GRCh37
NC_000006.10:g.121810071T=	NCBI36
NG_008308.1:g.16628T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.379T= MANE Select	ENSP00000282561.3:p.Leu127=
ENST00000647564.1:c.379T=	ENSP00000497565.1:p.Leu127=
ENST00000649003.1:c.379T=	ENSP00000497283.1:p.Leu127=
ENST00000650427.1:c.379T=	ENSP00000497367.1:p.Leu127=
ENST00000282561.3:c.379T=	ENSP00000282561.3:p.Leu127=
NM_000165.4:c.379T=	NP_000156.1:p.Leu127=
NM_000165.5:c.379T= MANE Select	NP_000156.1:p.Leu127=