Canonical Allele Identifier: CA365559254
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447393T>A , CM000668.2:g.121447393T>A GRCh38
NC_000006.11:g.121768539T>A , CM000668.1:g.121768539T>A GRCh37
NC_000006.10:g.121810238T>A NCBI36
NG_008308.1:g.16795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.546T>A MANE Select ENSP00000282561.3:p.Ser182Arg
ENST00000647564.1:c.546T>A ENSP00000497565.1:p.Ser182Arg
ENST00000649003.1:c.546T>A ENSP00000497283.1:p.Ser182Arg
ENST00000650427.1:c.546T>A ENSP00000497367.1:p.Ser182Arg
ENST00000282561.3:c.546T>A ENSP00000282561.3:p.Ser182Arg
NM_000165.4:c.546T>A NP_000156.1:p.Ser182Arg
NM_000165.5:c.546T>A MANE Select NP_000156.1:p.Ser182Arg