Canonical Allele Identifier: CA365558399
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447096A>G , CM000668.2:g.121447096A>G GRCh38
NC_000006.11:g.121768242A>G , CM000668.1:g.121768242A>G GRCh37
NC_000006.10:g.121809941A>G NCBI36
NG_008308.1:g.16498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.249A>G MANE Select ENSP00000282561.3:p.Ile83Met
ENST00000647564.1:c.249A>G ENSP00000497565.1:p.Ile83Met
ENST00000649003.1:c.249A>G ENSP00000497283.1:p.Ile83Met
ENST00000650427.1:c.249A>G ENSP00000497367.1:p.Ile83Met
ENST00000282561.3:c.249A>G ENSP00000282561.3:p.Ile83Met
NM_000165.4:c.249A>G NP_000156.1:p.Ile83Met
NM_000165.5:c.249A>G MANE Select NP_000156.1:p.Ile83Met