Canonical Allele Identifier: CA1199652696
Gene: GJA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908227T= , CM000663.2:g.147908227T= GRCh38
NC_000001.10:g.147380354T= , CM000663.1:g.147380354T= GRCh37
NC_000001.9:g.145846978T= NCBI36
NG_016242.1:g.10409T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.272T= MANE Select ENSP00000358238.1:p.Met91=
ENST00000369235.1:c.272T= ENSP00000358238.1:p.Met91=
NM_005267.4:c.272T= NP_005258.2:p.Met91=
XM_011509416.1:c.272T= XP_011507718.1:p.Met91=
XM_011509417.1:c.272T= XP_011507719.1:p.Met91=
XM_011509417.2:c.272T= XP_011507719.1:p.Met91=
XR_002956281.1:n.1187T=
NM_005267.5:c.272T= MANE Select NP_005258.2:p.Met91=