Canonical Allele Identifier: CA402378972
Gene: LOXHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579683C>A , CM000680.2:g.46579683C>A GRCh38
NC_000018.9:g.44159646C>A , CM000680.1:g.44159646C>A GRCh37
NC_000018.8:g.42413644C>A NCBI36
NG_016646.1:g.82351G>T
NG_016646.2:g.82351G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1756G>T MANE Select ENSP00000496347.1:p.Glu586Ter
ENST00000335730.6:n.1069G>T
ENST00000441551.6:c.1756G>T ENSP00000387621.2:p.Glu586Ter
ENST00000536736.5:c.1756G>T ENSP00000444586.1:p.Glu586Ter
NM_144612.6:c.1756G>T NP_653213.6:p.Glu586Ter
XM_011525803.1:c.1756G>T XP_011524105.1:p.Glu586Ter
XM_011525804.1:c.-30-1816G>T XP_011524106.1:n.-30-1816G>T
XM_011525804.2:c.-30-1816G>T XP_011524106.1:n.-30-1816G>T
XM_017025548.1:c.1756G>T XP_016881037.1:p.Glu586Ter
XM_024451084.1:c.238G>T XP_024306852.1:p.Glu80Ter
NM_001384474.1:c.1756G>T MANE Select NP_001371403.1:p.Glu586Ter
NM_144612.7:c.1756G>T NP_653213.6:p.Glu586Ter