Canonical Allele Identifier: CA8952632

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46560448C>G , CM000680.2:g.46560448C>G	GRCh38
NC_000018.9:g.44140411C>G , CM000680.1:g.44140411C>G	GRCh37
NC_000018.8:g.42394409C>G	NCBI36
NG_016646.1:g.101586G>C
NG_016646.2:g.101586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.2696G>C MANE Select	ENSP00000496347.1:p.Arg899Pro
ENST00000335730.6:n.2009G>C
ENST00000441551.6:c.2598+2617G>C	ENSP00000387621.2:n.2598+2617G>C
ENST00000536736.5:c.2696G>C	ENSP00000444586.1:p.Arg899Pro
NM_144612.6:c.2696G>C	NP_653213.6:p.Arg899Pro
XM_011525803.1:c.2696G>C	XP_011524105.1:p.Arg899Pro
XM_011525804.1:c.857G>C	XP_011524106.1:p.Arg286Pro
XM_011525804.2:c.857G>C	XP_011524106.1:p.Arg286Pro
XM_017025548.1:c.2598+2617G>C	XP_016881037.1:n.2598+2617G>C
XM_024451084.1:c.1178G>C	XP_024306852.1:p.Arg393Pro
NM_001384474.1:c.2696G>C MANE Select	NP_001371403.1:p.Arg899Pro
NM_144612.7:c.2696G>C	NP_653213.6:p.Arg899Pro