Canonical Allele Identifier: CA2680194986
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446736C>A , CM000668.2:g.121446736C>A GRCh38
NC_000006.11:g.121767882C>A , CM000668.1:g.121767882C>A GRCh37
NC_000006.10:g.121809581C>A NCBI36
NG_008308.1:g.16138C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-96C>A MANE Select ENSP00000282561.3:n.-16-96C>A
ENST00000647564.1:c.-16-96C>A ENSP00000497565.1:n.-16-96C>A
ENST00000649003.1:c.-16-96C>A ENSP00000497283.1:n.-16-96C>A
ENST00000650427.1:c.-16-96C>A ENSP00000497367.1:n.-16-96C>A
ENST00000282561.3:c.-16-96C>A ENSP00000282561.3:n.-16-96C>A
NM_000165.4:c.-16-96C>A NP_000156.1:n.-16-96C>A
NM_000165.5:c.-16-96C>A MANE Select NP_000156.1:n.-16-96C>A