Canonical Allele Identifier: CA10577085
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228814
dbSNP Id: rs540100675

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579680G>A , CM000680.2:g.46579680G>A GRCh38
NC_000018.9:g.44159643G>A , CM000680.1:g.44159643G>A GRCh37
NC_000018.8:g.42413641G>A NCBI36
NG_016646.1:g.82354C>T
NG_016646.2:g.82354C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.1759C>T MANE Select ENSP00000496347.1:p.Arg587Trp
ENST00000335730.6:n.1072C>T
ENST00000441551.6:c.1759C>T ENSP00000387621.2:p.Arg587Trp
ENST00000536736.5:c.1759C>T ENSP00000444586.1:p.Arg587Trp
NM_144612.6:c.1759C>T NP_653213.6:p.Arg587Trp
XM_011525803.1:c.1759C>T XP_011524105.1:p.Arg587Trp
XM_011525804.1:c.-30-1813C>T XP_011524106.1:n.-30-1813C>T
XM_011525804.2:c.-30-1813C>T XP_011524106.1:n.-30-1813C>T
XM_017025548.1:c.1759C>T XP_016881037.1:p.Arg587Trp
XM_024451084.1:c.241C>T XP_024306852.1:p.Arg81Trp
NM_001384474.1:c.1759C>T MANE Select NP_001371403.1:p.Arg587Trp
NM_144612.7:c.1759C>T NP_653213.6:p.Arg587Trp