Canonical Allele Identifier: CA299792218

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477628C>T , CM000680.2:g.46477628C>T	GRCh38
NC_000018.9:g.44057591C>T , CM000680.1:g.44057591C>T	GRCh37
NC_000018.8:g.42311589C>T	NCBI36
NG_016646.1:g.184406G>A
NG_016646.2:g.184406G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6666G>A MANE Select	NP_001371403.1:p.Glu2222=
ENST00000642948.1:c.6666G>A MANE Select	ENSP00000496347.1:p.Glu2222=
NM_001145472.2:c.3307+26G>A	NP_001138944.1:n.3307+26G>A
NM_001145472.3:c.3307+26G>A	NP_001138944.1:n.3307+26G>A
NM_001145473.2:c.1383G>A	NP_001138945.1:p.Glu461=
NM_001145473.3:c.1383G>A	NP_001138945.1:p.Glu461=
NM_001173129.1:c.1371+12G>A	NP_001166600.1:n.1371+12G>A
NM_001173129.2:c.1371+12G>A	NP_001166600.1:n.1371+12G>A
NM_001308013.1:c.3033+12G>A	NP_001294942.1:n.3033+12G>A
NM_001308013.2:c.3033+12G>A	NP_001294942.1:n.3033+12G>A
NM_144612.6:c.6480G>A	NP_653213.6:p.Glu2160=
NM_144612.7:c.6480G>A	NP_653213.6:p.Glu2160=
ENST00000300591.10:c.3307+26G>A	ENSP00000300591.6:n.3307+26G>A
ENST00000300591.11:c.3307+26G>A	ENSP00000300591.6:n.3307+26G>A
ENST00000398686.8:c.1383G>A	ENSP00000381676.4:p.Glu461=
ENST00000398705.6:c.1371+12G>A	ENSP00000381692.2:n.1371+12G>A
ENST00000398705.7:c.1371+12G>A	ENSP00000381692.2:n.1371+12G>A
ENST00000441551.6:c.6048G>A	ENSP00000387621.2:p.Glu2016=
ENST00000536736.5:c.6480G>A	ENSP00000444586.1:p.Glu2160=
ENST00000579038.5:c.3033+12G>A	ENSP00000463285.1:n.3033+12G>A
ENST00000579038.6:c.3033+12G>A	ENSP00000463285.1:n.3033+12G>A
ENST00000582408.5:c.3147G>A	ENSP00000461964.1:p.Glu1049=
ENST00000582408.6:c.3147G>A	ENSP00000461964.1:p.Glu1049=
XM_006722388.2:c.3465G>A	XP_006722451.1:p.Glu1155=
XM_006722388.3:c.3465G>A	XP_006722451.1:p.Glu1155=
XM_006722389.2:c.3333G>A	XP_006722452.1:p.Glu1111=
XM_006722389.3:c.3333G>A	XP_006722452.1:p.Glu1111=
XM_006722390.2:c.3333G>A	XP_006722453.1:p.Glu1111=
XM_006722390.3:c.3333G>A	XP_006722453.1:p.Glu1111=
XM_006722391.2:c.3279G>A	XP_006722454.1:p.Glu1093=
XM_006722391.3:c.3279G>A	XP_006722454.1:p.Glu1093=
XM_011525803.1:c.6666G>A	XP_011524105.1:p.Glu2222=
XM_011525804.1:c.4827G>A	XP_011524106.1:p.Glu1609=
XM_011525804.2:c.4827G>A	XP_011524106.1:p.Glu1609=
XM_011525805.1:c.3330G>A	XP_011524107.1:p.Glu1110=
XM_011525806.1:c.3045G>A	XP_011524108.1:p.Glu1015=
XM_011525807.1:c.3045G>A	XP_011524109.1:p.Glu1015=
XM_011525809.1:c.3045G>A	XP_011524111.1:p.Glu1015=
XM_011525810.1:c.1434G>A	XP_011524112.1:p.Glu478=
XM_011525810.2:c.1434G>A	XP_011524112.1:p.Glu478=
XM_011525811.1:c.1383G>A	XP_011524113.1:p.Glu461=
XM_011525811.2:c.1383G>A	XP_011524113.1:p.Glu461=
XM_017025548.1:c.6048G>A	XP_016881037.1:p.Glu2016=
XM_024451084.1:c.5148G>A	XP_024306852.1:p.Glu1716=
XM_024451085.1:c.3330G>A	XP_024306853.1:p.Glu1110=
XM_024451086.1:c.3045G>A	XP_024306854.1:p.Glu1015=
XM_024451087.1:c.3045G>A	XP_024306855.1:p.Glu1015=
XM_024451088.1:c.3045G>A	XP_024306856.1:p.Glu1015=