Canonical Allele Identifier: CA452134055

Gene: GJA1

Linked Data

• MyVariant Identifiers: chr6:g.121768422T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447276T>G , CM000668.2:g.121447276T>G	GRCh38
NC_000006.11:g.121768422T>G , CM000668.1:g.121768422T>G	GRCh37
NC_000006.10:g.121810121T>G	NCBI36
NG_008308.1:g.16678T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.429T>G MANE Select	ENSP00000282561.3:p.Gly143=
ENST00000647564.1:c.429T>G	ENSP00000497565.1:p.Gly143=
ENST00000649003.1:c.429T>G	ENSP00000497283.1:p.Gly143=
ENST00000650427.1:c.429T>G	ENSP00000497367.1:p.Gly143=
ENST00000282561.3:c.429T>G	ENSP00000282561.3:p.Gly143=
NM_000165.4:c.429T>G	NP_000156.1:p.Gly143=
NM_000165.5:c.429T>G MANE Select	NP_000156.1:p.Gly143=