Canonical Allele Identifier: CA1659501617
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447336T= , CM000668.2:g.121447336T= GRCh38
NC_000006.11:g.121768482T= , CM000668.1:g.121768482T= GRCh37
NC_000006.10:g.121810181T= NCBI36
NG_008308.1:g.16738T=

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.489T= MANE Select ENSP00000282561.3:p.Ser163=
ENST00000647564.1:c.489T= ENSP00000497565.1:p.Ser163=
ENST00000649003.1:c.489T= ENSP00000497283.1:p.Ser163=
ENST00000650427.1:c.489T= ENSP00000497367.1:p.Ser163=
ENST00000282561.3:c.489T= ENSP00000282561.3:p.Ser163=
NM_000165.4:c.489T= NP_000156.1:p.Ser163=
NM_000165.5:c.489T= MANE Select NP_000156.1:p.Ser163=