Canonical Allele Identifier: CA342223659
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908197A>T , CM000663.2:g.147908197A>T GRCh38
NC_000001.10:g.147380324A>T , CM000663.1:g.147380324A>T GRCh37
NC_000001.9:g.145846948A>T NCBI36
NG_016242.1:g.10379A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.242A>T MANE Select ENSP00000358238.1:p.Gln81Leu
ENST00000369235.1:c.242A>T ENSP00000358238.1:p.Gln81Leu
NM_005267.4:c.242A>T NP_005258.2:p.Gln81Leu
XM_011509416.1:c.242A>T XP_011507718.1:p.Gln81Leu
XM_011509417.1:c.242A>T XP_011507719.1:p.Gln81Leu
XM_011509417.2:c.242A>T XP_011507719.1:p.Gln81Leu
XR_002956281.1:n.1157A>T
NM_005267.5:c.242A>T MANE Select NP_005258.2:p.Gln81Leu