Canonical Allele Identifier: CA503815453

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46572126-G-T
• MyVariant Identifiers: chr18:g.44152089G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572126G>T , CM000680.2:g.46572126G>T	GRCh38
NC_000018.9:g.44152089G>T , CM000680.1:g.44152089G>T	GRCh37
NC_000018.8:g.42406087G>T	NCBI36
NG_016646.1:g.89908C>A
NG_016646.2:g.89908C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2007C>A MANE Select	ENSP00000496347.1:p.Val669=
ENST00000335730.6:n.1320C>A
ENST00000441551.6:c.2007C>A	ENSP00000387621.2:p.Val669=
ENST00000536736.5:c.2007C>A	ENSP00000444586.1:p.Val669=
NM_144612.6:c.2007C>A	NP_653213.6:p.Val669=
XM_011525803.1:c.2007C>A	XP_011524105.1:p.Val669=
XM_011525804.1:c.168C>A	XP_011524106.1:p.Val56=
XM_011525804.2:c.168C>A	XP_011524106.1:p.Val56=
XM_017025548.1:c.2007C>A	XP_016881037.1:p.Val669=
XM_024451084.1:c.489C>A	XP_024306852.1:p.Val163=
NM_001384474.1:c.2007C>A MANE Select	NP_001371403.1:p.Val669=
NM_144612.7:c.2007C>A	NP_653213.6:p.Val669=