Canonical Allele Identifier: CA299798521

Gene: LOXHD1

Linked Data

• dbSNP Id: rs773855854
• gnomAD v2: 18-44152091-C-A
• gnomAD v4: 18-46572128-C-A
• MyVariant Identifiers: chr18:g.44152091C>A (hg19) ; chr18:g.46572128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572128C>A , CM000680.2:g.46572128C>A	GRCh38
NC_000018.9:g.44152091C>A , CM000680.1:g.44152091C>A	GRCh37
NC_000018.8:g.42406089C>A	NCBI36
NG_016646.1:g.89906G>T
NG_016646.2:g.89906G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2005G>T MANE Select	ENSP00000496347.1:p.Val669Phe
ENST00000335730.6:n.1318G>T
ENST00000441551.6:c.2005G>T	ENSP00000387621.2:p.Val669Phe
ENST00000536736.5:c.2005G>T	ENSP00000444586.1:p.Val669Phe
NM_144612.6:c.2005G>T	NP_653213.6:p.Val669Phe
XM_011525803.1:c.2005G>T	XP_011524105.1:p.Val669Phe
XM_011525804.1:c.166G>T	XP_011524106.1:p.Val56Phe
XM_011525804.2:c.166G>T	XP_011524106.1:p.Val56Phe
XM_017025548.1:c.2005G>T	XP_016881037.1:p.Val669Phe
XM_024451084.1:c.487G>T	XP_024306852.1:p.Val163Phe
NM_001384474.1:c.2005G>T MANE Select	NP_001371403.1:p.Val669Phe
NM_144612.7:c.2005G>T	NP_653213.6:p.Val669Phe