Canonical Allele Identifier: CA452134045

Gene: GJA1

Linked Data

• MyVariant Identifiers: chr6:g.121768644C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447498C>T , CM000668.2:g.121447498C>T	GRCh38
NC_000006.11:g.121768644C>T , CM000668.1:g.121768644C>T	GRCh37
NC_000006.10:g.121810343C>T	NCBI36
NG_008308.1:g.16900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.651C>T MANE Select	ENSP00000282561.3:p.Ser217=
ENST00000647564.1:c.651C>T	ENSP00000497565.1:p.Ser217=
ENST00000649003.1:c.651C>T	ENSP00000497283.1:p.Ser217=
ENST00000650427.1:c.651C>T	ENSP00000497367.1:p.Ser217=
ENST00000282561.3:c.651C>T	ENSP00000282561.3:p.Ser217=
NM_000165.4:c.651C>T	NP_000156.1:p.Ser217=
NM_000165.5:c.651C>T MANE Select	NP_000156.1:p.Ser217=