Canonical Allele Identifier: CA342223577
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908176A>T , CM000663.2:g.147908176A>T GRCh38
NC_000001.10:g.147380303A>T , CM000663.1:g.147380303A>T GRCh37
NC_000001.9:g.145846927A>T NCBI36
NG_016242.1:g.10358A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.221A>T MANE Select ENSP00000358238.1:p.His74Leu
ENST00000369235.1:c.221A>T ENSP00000358238.1:p.His74Leu
NM_005267.4:c.221A>T NP_005258.2:p.His74Leu
XM_011509416.1:c.221A>T XP_011507718.1:p.His74Leu
XM_011509417.1:c.221A>T XP_011507719.1:p.His74Leu
XM_011509417.2:c.221A>T XP_011507719.1:p.His74Leu
XR_002956281.1:n.1136A>T
NM_005267.5:c.221A>T MANE Select NP_005258.2:p.His74Leu