Canonical Allele Identifier: CA402376390

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572125G>C , CM000680.2:g.46572125G>C	GRCh38
NC_000018.9:g.44152088G>C , CM000680.1:g.44152088G>C	GRCh37
NC_000018.8:g.42406086G>C	NCBI36
NG_016646.1:g.89909C>G
NG_016646.2:g.89909C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.2008C>G MANE Select	NP_001371403.1:p.Arg670Gly
ENST00000642948.1:c.2008C>G MANE Select	ENSP00000496347.1:p.Arg670Gly
NM_144612.6:c.2008C>G	NP_653213.6:p.Arg670Gly
NM_144612.7:c.2008C>G	NP_653213.6:p.Arg670Gly
ENST00000335730.6:n.1321C>G
ENST00000441551.6:c.2008C>G	ENSP00000387621.2:p.Arg670Gly
ENST00000536736.5:c.2008C>G	ENSP00000444586.1:p.Arg670Gly
XM_011525803.1:c.2008C>G	XP_011524105.1:p.Arg670Gly
XM_011525804.1:c.169C>G	XP_011524106.1:p.Arg57Gly
XM_011525804.2:c.169C>G	XP_011524106.1:p.Arg57Gly
XM_017025548.1:c.2008C>G	XP_016881037.1:p.Arg670Gly
XM_024451084.1:c.490C>G	XP_024306852.1:p.Arg164Gly