Canonical Allele Identifier: CA365557710
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446852G>A , CM000668.2:g.121446852G>A GRCh38
NC_000006.11:g.121767998G>A , CM000668.1:g.121767998G>A GRCh37
NC_000006.10:g.121809697G>A NCBI36
NG_008308.1:g.16254G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.5G>A MANE Select ENSP00000282561.3:p.Gly2Asp
ENST00000647564.1:c.5G>A ENSP00000497565.1:p.Gly2Asp
ENST00000649003.1:c.5G>A ENSP00000497283.1:p.Gly2Asp
ENST00000650427.1:c.5G>A ENSP00000497367.1:p.Gly2Asp
ENST00000282561.3:c.5G>A ENSP00000282561.3:p.Gly2Asp
NM_000165.4:c.5G>A NP_000156.1:p.Gly2Asp
NM_000165.5:c.5G>A MANE Select NP_000156.1:p.Gly2Asp