Canonical Allele Identifier: CA402379064

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46579727-G-A
• MyVariant Identifiers: chr18:g.44159690G>A (hg19) ; chr18:g.46579727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579727G>A , CM000680.2:g.46579727G>A	GRCh38
NC_000018.9:g.44159690G>A , CM000680.1:g.44159690G>A	GRCh37
NC_000018.8:g.42413688G>A	NCBI36
NG_016646.1:g.82307C>T
NG_016646.2:g.82307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1712C>T MANE Select	ENSP00000496347.1:p.Ala571Val
ENST00000335730.6:n.1025C>T
ENST00000441551.6:c.1712C>T	ENSP00000387621.2:p.Ala571Val
ENST00000536736.5:c.1712C>T	ENSP00000444586.1:p.Ala571Val
NM_144612.6:c.1712C>T	NP_653213.6:p.Ala571Val
XM_011525803.1:c.1712C>T	XP_011524105.1:p.Ala571Val
XM_011525804.1:c.-30-1860C>T	XP_011524106.1:n.-30-1860C>T
XM_011525804.2:c.-30-1860C>T	XP_011524106.1:n.-30-1860C>T
XM_017025548.1:c.1712C>T	XP_016881037.1:p.Ala571Val
XM_024451084.1:c.194C>T	XP_024306852.1:p.Ala65Val
NM_001384474.1:c.1712C>T MANE Select	NP_001371403.1:p.Ala571Val
NM_144612.7:c.1712C>T	NP_653213.6:p.Ala571Val