Canonical Allele Identifier: CA182243

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46488987C>T , CM000680.2:g.46488987C>T	GRCh38
NC_000018.9:g.44068950C>T , CM000680.1:g.44068950C>T	GRCh37
NC_000018.8:g.42322948C>T	NCBI36
NG_016646.1:g.173047G>A
NG_016646.2:g.173047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.2701G>A	ENSP00000300591.6:p.Glu901Lys
ENST00000398705.7:c.751G>A	ENSP00000381692.2:p.Glu251Lys
ENST00000579038.6:c.2413G>A	ENSP00000463285.1:p.Glu805Lys
ENST00000582408.6:c.2515G>A	ENSP00000461964.1:p.Glu839Lys
ENST00000642948.1:c.6034G>A MANE Select	ENSP00000496347.1:p.Glu2012Lys
ENST00000300591.10:c.2701G>A	ENSP00000300591.6:p.Glu901Lys
ENST00000398686.8:c.751G>A	ENSP00000381676.4:p.Glu251Lys
ENST00000398705.6:c.751G>A	ENSP00000381692.2:p.Glu251Lys
ENST00000441551.6:c.5416G>A	ENSP00000387621.2:p.Glu1806Lys
ENST00000536736.5:c.5848G>A	ENSP00000444586.1:p.Glu1950Lys
ENST00000579038.5:c.2413G>A	ENSP00000463285.1:p.Glu805Lys
ENST00000582408.5:c.2515G>A	ENSP00000461964.1:p.Glu839Lys
NM_001145472.2:c.2701G>A	NP_001138944.1:p.Glu901Lys
NM_001145473.2:c.751G>A	NP_001138945.1:p.Glu251Lys
NM_001173129.1:c.751G>A	NP_001166600.1:p.Glu251Lys
NM_001308013.1:c.2413G>A	NP_001294942.1:p.Glu805Lys
NM_144612.6:c.5848G>A	NP_653213.6:p.Glu1950Lys
XM_006722388.2:c.2833G>A	XP_006722451.1:p.Glu945Lys
XM_006722389.2:c.2701G>A	XP_006722452.1:p.Glu901Lys
XM_006722390.2:c.2701G>A	XP_006722453.1:p.Glu901Lys
XM_006722391.2:c.2647G>A	XP_006722454.1:p.Glu883Lys
XM_011525803.1:c.6034G>A	XP_011524105.1:p.Glu2012Lys
XM_011525804.1:c.4195G>A	XP_011524106.1:p.Glu1399Lys
XM_011525805.1:c.2698G>A	XP_011524107.1:p.Glu900Lys
XM_011525806.1:c.2413G>A	XP_011524108.1:p.Glu805Lys
XM_011525807.1:c.2413G>A	XP_011524109.1:p.Glu805Lys
XM_011525809.1:c.2413G>A	XP_011524111.1:p.Glu805Lys
XM_011525810.1:c.802G>A	XP_011524112.1:p.Glu268Lys
XM_011525811.1:c.751G>A	XP_011524113.1:p.Glu251Lys
XM_006722388.3:c.2833G>A	XP_006722451.1:p.Glu945Lys
XM_006722389.3:c.2701G>A	XP_006722452.1:p.Glu901Lys
XM_006722390.3:c.2701G>A	XP_006722453.1:p.Glu901Lys
XM_006722391.3:c.2647G>A	XP_006722454.1:p.Glu883Lys
XM_011525804.2:c.4195G>A	XP_011524106.1:p.Glu1399Lys
XM_011525810.2:c.802G>A	XP_011524112.1:p.Glu268Lys
XM_011525811.2:c.751G>A	XP_011524113.1:p.Glu251Lys
XM_017025548.1:c.5416G>A	XP_016881037.1:p.Glu1806Lys
XM_024451084.1:c.4516G>A	XP_024306852.1:p.Glu1506Lys
XM_024451085.1:c.2698G>A	XP_024306853.1:p.Glu900Lys
XM_024451086.1:c.2413G>A	XP_024306854.1:p.Glu805Lys
XM_024451087.1:c.2413G>A	XP_024306855.1:p.Glu805Lys
XM_024451088.1:c.2413G>A	XP_024306856.1:p.Glu805Lys
NM_001145472.3:c.2701G>A	NP_001138944.1:p.Glu901Lys
NM_001145473.3:c.751G>A	NP_001138945.1:p.Glu251Lys
NM_001173129.2:c.751G>A	NP_001166600.1:p.Glu251Lys
NM_001308013.2:c.2413G>A	NP_001294942.1:p.Glu805Lys
NM_001384474.1:c.6034G>A MANE Select	NP_001371403.1:p.Glu2012Lys
NM_144612.7:c.5848G>A	NP_653213.6:p.Glu1950Lys