Canonical Allele Identifier: CA1199652706
Gene: GJA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908240C= , CM000663.2:g.147908240C= GRCh38
NC_000001.10:g.147380367C= , CM000663.1:g.147380367C= GRCh37
NC_000001.9:g.145846991C= NCBI36
NG_016242.1:g.10422C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.285C= MANE Select ENSP00000358238.1:p.His95=
ENST00000369235.1:c.285C= ENSP00000358238.1:p.His95=
NM_005267.4:c.285C= NP_005258.2:p.His95=
XM_011509416.1:c.285C= XP_011507718.1:p.His95=
XM_011509417.1:c.285C= XP_011507719.1:p.His95=
XM_011509417.2:c.285C= XP_011507719.1:p.His95=
XR_002956281.1:n.1200C=
NM_005267.5:c.285C= MANE Select NP_005258.2:p.His95=