Canonical Allele Identifier: CA402379164
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1199288
ClinVar RCV Id: RCV001563774
dbSNP Id: rs2144147870

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579773G>C , CM000680.2:g.46579773G>C GRCh38
NC_000018.9:g.44159736G>C , CM000680.1:g.44159736G>C GRCh37
NC_000018.8:g.42413734G>C NCBI36
NG_016646.1:g.82261C>G
NG_016646.2:g.82261C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1666C>G MANE Select ENSP00000496347.1:p.His556Asp
ENST00000335730.6:n.979C>G
ENST00000441551.6:c.1666C>G ENSP00000387621.2:p.His556Asp
ENST00000536736.5:c.1666C>G ENSP00000444586.1:p.His556Asp
NM_144612.6:c.1666C>G NP_653213.6:p.His556Asp
XM_011525803.1:c.1666C>G XP_011524105.1:p.His556Asp
XM_011525804.1:c.-30-1906C>G XP_011524106.1:n.-30-1906C>G
XM_011525804.2:c.-30-1906C>G XP_011524106.1:n.-30-1906C>G
XM_017025548.1:c.1666C>G XP_016881037.1:p.His556Asp
XM_024451084.1:c.148C>G XP_024306852.1:p.His50Asp
NM_001384474.1:c.1666C>G MANE Select NP_001371403.1:p.His556Asp
NM_144612.7:c.1666C>G NP_653213.6:p.His556Asp