Canonical Allele Identifier: CA452134129
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768482T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447336T>G , CM000668.2:g.121447336T>G GRCh38
NC_000006.11:g.121768482T>G , CM000668.1:g.121768482T>G GRCh37
NC_000006.10:g.121810181T>G NCBI36
NG_008308.1:g.16738T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.489T>G MANE Select ENSP00000282561.3:p.Ser163=
ENST00000647564.1:c.489T>G ENSP00000497565.1:p.Ser163=
ENST00000649003.1:c.489T>G ENSP00000497283.1:p.Ser163=
ENST00000650427.1:c.489T>G ENSP00000497367.1:p.Ser163=
ENST00000282561.3:c.489T>G ENSP00000282561.3:p.Ser163=
NM_000165.4:c.489T>G NP_000156.1:p.Ser163=
NM_000165.5:c.489T>G MANE Select NP_000156.1:p.Ser163=