Canonical Allele Identifier: CA8952763

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 891862
• ClinVar RCV Id: RCV001127409
• dbSNP Id: rs747842788
• ExAC: 18:44159651 G / A
• gnomAD v2: 18-44159651-G-A
• gnomAD v3: 18-46579688-G-A
• gnomAD v4: 18-46579688-G-A
• MyVariant Identifiers: chr18:g.44159651G>A (hg19) ; chr18:g.46579688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579688G>A , CM000680.2:g.46579688G>A	GRCh38
NC_000018.9:g.44159651G>A , CM000680.1:g.44159651G>A	GRCh37
NC_000018.8:g.42413649G>A	NCBI36
NG_016646.1:g.82346C>T
NG_016646.2:g.82346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.1751C>T MANE Select	ENSP00000496347.1:p.Thr584Met
ENST00000335730.6:n.1064C>T
ENST00000441551.6:c.1751C>T	ENSP00000387621.2:p.Thr584Met
ENST00000536736.5:c.1751C>T	ENSP00000444586.1:p.Thr584Met
NM_144612.6:c.1751C>T	NP_653213.6:p.Thr584Met
XM_011525803.1:c.1751C>T	XP_011524105.1:p.Thr584Met
XM_011525804.1:c.-30-1821C>T	XP_011524106.1:n.-30-1821C>T
XM_011525804.2:c.-30-1821C>T	XP_011524106.1:n.-30-1821C>T
XM_017025548.1:c.1751C>T	XP_016881037.1:p.Thr584Met
XM_024451084.1:c.233C>T	XP_024306852.1:p.Thr78Met
NM_001384474.1:c.1751C>T MANE Select	NP_001371403.1:p.Thr584Met
NM_144612.7:c.1751C>T	NP_653213.6:p.Thr584Met