Canonical Allele Identifier: CA8952637

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46560480C>T , CM000680.2:g.46560480C>T	GRCh38
NC_000018.9:g.44140443C>T , CM000680.1:g.44140443C>T	GRCh37
NC_000018.8:g.42394441C>T	NCBI36
NG_016646.1:g.101554G>A
NG_016646.2:g.101554G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.2664G>A MANE Select	NP_001371403.1:p.Gly888=
ENST00000642948.1:c.2664G>A MANE Select	ENSP00000496347.1:p.Gly888=
NM_144612.6:c.2664G>A	NP_653213.6:p.Gly888=
NM_144612.7:c.2664G>A	NP_653213.6:p.Gly888=
ENST00000335730.6:n.1977G>A
ENST00000441551.6:c.2598+2585G>A	ENSP00000387621.2:n.2598+2585G>A
ENST00000536736.5:c.2664G>A	ENSP00000444586.1:p.Gly888=
XM_011525803.1:c.2664G>A	XP_011524105.1:p.Gly888=
XM_011525804.1:c.825G>A	XP_011524106.1:p.Gly275=
XM_011525804.2:c.825G>A	XP_011524106.1:p.Gly275=
XM_017025548.1:c.2598+2585G>A	XP_016881037.1:n.2598+2585G>A
XM_024451084.1:c.1146G>A	XP_024306852.1:p.Gly382=