Canonical Allele Identifier: CA1659501901
Community Standard Title: NM_000165.5(GJA1):c.1127G= (p.Arg376=)
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447974G= , CM000668.2:g.121447974G= GRCh38
NC_000006.11:g.121769120G= , CM000668.1:g.121769120G= GRCh37
NC_000006.10:g.121810819G= NCBI36
NG_008308.1:g.17376G=

Transcript Alleles

HGVS Amino-acid Change
NM_000165.5:c.1127G= MANE Select NP_000156.1:p.Arg376=
ENST00000282561.4:c.1127G= MANE Select ENSP00000282561.3:p.Arg376=
NM_000165.4:c.1127G= NP_000156.1:p.Arg376=
ENST00000282561.3:c.1127G= ENSP00000282561.3:p.Arg376=
ENST00000647564.1:c.1127G= ENSP00000497565.1:p.Arg376=
ENST00000649003.1:c.1127G= ENSP00000497283.1:p.Arg376=
ENST00000650427.1:c.1127G= ENSP00000497367.1:p.Arg376=