Canonical Allele Identifier: CA365559467
Gene: GJA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447487C>A , CM000668.2:g.121447487C>A GRCh38
NC_000006.11:g.121768633C>A , CM000668.1:g.121768633C>A GRCh37
NC_000006.10:g.121810332C>A NCBI36
NG_008308.1:g.16889C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.640C>A MANE Select ENSP00000282561.3:p.Leu214Met
ENST00000647564.1:c.640C>A ENSP00000497565.1:p.Leu214Met
ENST00000649003.1:c.640C>A ENSP00000497283.1:p.Leu214Met
ENST00000650427.1:c.640C>A ENSP00000497367.1:p.Leu214Met
ENST00000282561.3:c.640C>A ENSP00000282561.3:p.Leu214Met
NM_000165.4:c.640C>A NP_000156.1:p.Leu214Met
NM_000165.5:c.640C>A MANE Select NP_000156.1:p.Leu214Met