Canonical Allele Identifier: CA2578728861

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446842G>T , CM000668.2:g.121446842G>T	GRCh38
NC_000006.11:g.121767988G>T , CM000668.1:g.121767988G>T	GRCh37
NC_000006.10:g.121809687G>T	NCBI36
NG_008308.1:g.16244G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282561.4:c.-6G>T MANE Select	ENSP00000282561.3:n.-6G>T
ENST00000647564.1:c.-6G>T	ENSP00000497565.1:n.-6G>T
ENST00000649003.1:c.-6G>T	ENSP00000497283.1:n.-6G>T
ENST00000650427.1:c.-6G>T	ENSP00000497367.1:n.-6G>T
ENST00000282561.3:c.-6G>T	ENSP00000282561.3:n.-6G>T
NM_000165.4:c.-6G>T	NP_000156.1:n.-6G>T
NM_000165.5:c.-6G>T MANE Select	NP_000156.1:n.-6G>T