Canonical Allele Identifier: CA1199652719
Gene: GJA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908260T= , CM000663.2:g.147908260T= GRCh38
NC_000001.10:g.147380387T= , CM000663.1:g.147380387T= GRCh37
NC_000001.9:g.145847011T= NCBI36
NG_016242.1:g.10442T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.305T= MANE Select ENSP00000358238.1:p.Met102=
ENST00000369235.1:c.305T= ENSP00000358238.1:p.Met102=
NM_005267.4:c.305T= NP_005258.2:p.Met102=
XM_011509416.1:c.305T= XP_011507718.1:p.Met102=
XM_011509417.1:c.305T= XP_011507719.1:p.Met102=
XM_011509417.2:c.305T= XP_011507719.1:p.Met102=
XR_002956281.1:n.1220T=
NM_005267.5:c.305T= MANE Select NP_005258.2:p.Met102=