Canonical Allele Identifier: CA402379000

Gene: LOXHD1

Linked Data

• MyVariant Identifiers: chr18:g.44159660A>T (hg19) ; chr18:g.46579697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579697A>T , CM000680.2:g.46579697A>T	GRCh38
NC_000018.9:g.44159660A>T , CM000680.1:g.44159660A>T	GRCh37
NC_000018.8:g.42413658A>T	NCBI36
NG_016646.1:g.82337T>A
NG_016646.2:g.82337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1742T>A MANE Select	ENSP00000496347.1:p.Val581Glu
ENST00000335730.6:n.1055T>A
ENST00000441551.6:c.1742T>A	ENSP00000387621.2:p.Val581Glu
ENST00000536736.5:c.1742T>A	ENSP00000444586.1:p.Val581Glu
NM_144612.6:c.1742T>A	NP_653213.6:p.Val581Glu
XM_011525803.1:c.1742T>A	XP_011524105.1:p.Val581Glu
XM_011525804.1:c.-30-1830T>A	XP_011524106.1:n.-30-1830T>A
XM_011525804.2:c.-30-1830T>A	XP_011524106.1:n.-30-1830T>A
XM_017025548.1:c.1742T>A	XP_016881037.1:p.Val581Glu
XM_024451084.1:c.224T>A	XP_024306852.1:p.Val75Glu
NM_001384474.1:c.1742T>A MANE Select	NP_001371403.1:p.Val581Glu
NM_144612.7:c.1742T>A	NP_653213.6:p.Val581Glu