Canonical Allele Identifier: CA127017

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446944C>T , CM000668.2:g.121446944C>T	GRCh38
NC_000006.11:g.121768090C>T , CM000668.1:g.121768090C>T	GRCh37
NC_000006.10:g.121809789C>T	NCBI36
NG_008308.1:g.16346C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000165.5:c.97C>T MANE Select	NP_000156.1:p.Arg33Ter
ENST00000282561.4:c.97C>T MANE Select	ENSP00000282561.3:p.Arg33Ter
NM_000165.4:c.97C>T	NP_000156.1:p.Arg33Ter
ENST00000282561.3:c.97C>T	ENSP00000282561.3:p.Arg33Ter
ENST00000647564.1:c.97C>T	ENSP00000497565.1:p.Arg33Ter
ENST00000649003.1:c.97C>T	ENSP00000497283.1:p.Arg33Ter
ENST00000650427.1:c.97C>T	ENSP00000497367.1:p.Arg33Ter