Canonical Allele Identifier: CA503816941

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1147706
• ClinVar RCV Id: RCV001487322
• dbSNP Id: rs540100675
• MyVariant Identifiers: chr18:g.44159643G>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1759C>A MANE Select	ENSP00000496347.1:p.Arg587=
ENST00000335730.6:n.1072C>A
ENST00000441551.6:c.1759C>A	ENSP00000387621.2:p.Arg587=
ENST00000536736.5:c.1759C>A	ENSP00000444586.1:p.Arg587=
NM_144612.6:c.1759C>A	NP_653213.6:p.Arg587=
XM_011525803.1:c.1759C>A	XP_011524105.1:p.Arg587=
XM_011525804.1:c.-30-1813C>A	XP_011524106.1:n.-30-1813C>A
XM_011525804.2:c.-30-1813C>A	XP_011524106.1:n.-30-1813C>A
XM_017025548.1:c.1759C>A	XP_016881037.1:p.Arg587=
XM_024451084.1:c.241C>A	XP_024306852.1:p.Arg81=
NM_001384474.1:c.1759C>A MANE Select	NP_001371403.1:p.Arg587=
NM_144612.7:c.1759C>A	NP_653213.6:p.Arg587=