Canonical Allele Identifier: CA8952404

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46538300G>T , CM000680.2:g.46538300G>T	GRCh38
NC_000018.9:g.44118263G>T , CM000680.1:g.44118263G>T	GRCh37
NC_000018.8:g.42372261G>T	NCBI36
NG_016646.1:g.123734C>A
NG_016646.2:g.123734C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.618C>A	ENSP00000300591.6:p.Val206=
ENST00000579038.6:c.330C>A	ENSP00000463285.1:p.Val110=
ENST00000582408.6:c.618C>A	ENSP00000461964.1:p.Val206=
ENST00000642948.1:c.3951C>A MANE Select	ENSP00000496347.1:p.Val1317=
ENST00000300591.10:c.618C>A	ENSP00000300591.6:p.Val206=
ENST00000335730.6:n.3264C>A
ENST00000441551.6:c.3333C>A	ENSP00000387621.2:p.Val1111=
ENST00000536111.1:c.657C>A	ENSP00000440060.1:p.Val219=
ENST00000536736.5:c.3951C>A	ENSP00000444586.1:p.Val1317=
ENST00000579038.5:c.330C>A	ENSP00000463285.1:p.Val110=
ENST00000582408.5:c.618C>A	ENSP00000461964.1:p.Val206=
NM_001145472.2:c.618C>A	NP_001138944.1:p.Val206=
NM_001308013.1:c.330C>A	NP_001294942.1:p.Val110=
NM_144612.6:c.3951C>A	NP_653213.6:p.Val1317=
XM_006722388.2:c.750C>A	XP_006722451.1:p.Val250=
XM_006722389.2:c.618C>A	XP_006722452.1:p.Val206=
XM_006722390.2:c.618C>A	XP_006722453.1:p.Val206=
XM_006722391.2:c.750C>A	XP_006722454.1:p.Val250=
XM_011525803.1:c.3951C>A	XP_011524105.1:p.Val1317=
XM_011525804.1:c.2112C>A	XP_011524106.1:p.Val704=
XM_011525805.1:c.615C>A	XP_011524107.1:p.Val205=
XM_011525806.1:c.330C>A	XP_011524108.1:p.Val110=
XM_011525807.1:c.330C>A	XP_011524109.1:p.Val110=
XM_011525809.1:c.330C>A	XP_011524111.1:p.Val110=
XM_006722388.3:c.750C>A	XP_006722451.1:p.Val250=
XM_006722389.3:c.618C>A	XP_006722452.1:p.Val206=
XM_006722390.3:c.618C>A	XP_006722453.1:p.Val206=
XM_006722391.3:c.750C>A	XP_006722454.1:p.Val250=
XM_011525804.2:c.2112C>A	XP_011524106.1:p.Val704=
XM_017025548.1:c.3333C>A	XP_016881037.1:p.Val1111=
XM_024451084.1:c.2433C>A	XP_024306852.1:p.Val811=
XM_024451085.1:c.615C>A	XP_024306853.1:p.Val205=
XM_024451086.1:c.330C>A	XP_024306854.1:p.Val110=
XM_024451087.1:c.330C>A	XP_024306855.1:p.Val110=
XM_024451088.1:c.330C>A	XP_024306856.1:p.Val110=
NM_001145472.3:c.618C>A	NP_001138944.1:p.Val206=
NM_001308013.2:c.330C>A	NP_001294942.1:p.Val110=
NM_001384474.1:c.3951C>A MANE Select	NP_001371403.1:p.Val1317=
NM_144612.7:c.3951C>A	NP_653213.6:p.Val1317=