Canonical Allele Identifier: CA8952685

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46566386C>T , CM000680.2:g.46566386C>T	GRCh38
NC_000018.9:g.44146349C>T , CM000680.1:g.44146349C>T	GRCh37
NC_000018.8:g.42400347C>T	NCBI36
NG_016646.1:g.95648G>A
NG_016646.2:g.95648G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.2308G>A MANE Select	NP_001371403.1:p.Val770Ile
ENST00000642948.1:c.2308G>A MANE Select	ENSP00000496347.1:p.Val770Ile
NM_144612.6:c.2308G>A	NP_653213.6:p.Val770Ile
NM_144612.7:c.2308G>A	NP_653213.6:p.Val770Ile
ENST00000335730.6:n.1621G>A
ENST00000441551.6:c.2308G>A	ENSP00000387621.2:p.Val770Ile
ENST00000536736.5:c.2308G>A	ENSP00000444586.1:p.Val770Ile
XM_011525803.1:c.2308G>A	XP_011524105.1:p.Val770Ile
XM_011525804.1:c.469G>A	XP_011524106.1:p.Val157Ile
XM_011525804.2:c.469G>A	XP_011524106.1:p.Val157Ile
XM_017025548.1:c.2308G>A	XP_016881037.1:p.Val770Ile
XM_024451084.1:c.790G>A	XP_024306852.1:p.Val264Ile