Canonical Allele Identifier: CA8952010

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477517C>T , CM000680.2:g.46477517C>T	GRCh38
NC_000018.9:g.44057480C>T , CM000680.1:g.44057480C>T	GRCh37
NC_000018.8:g.42311478C>T	NCBI36
NG_016646.1:g.184517G>A
NG_016646.2:g.184517G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6777G>A MANE Select	NP_001371403.1:p.Lys2259=
ENST00000642948.1:c.6777G>A MANE Select	ENSP00000496347.1:p.Lys2259=
NM_001145472.2:c.3307+137G>A	NP_001138944.1:n.3307+137G>A
NM_001145472.3:c.3307+137G>A	NP_001138944.1:n.3307+137G>A
NM_001145473.2:c.1494G>A	NP_001138945.1:p.Lys498=
NM_001145473.3:c.1494G>A	NP_001138945.1:p.Lys498=
NM_001173129.1:c.1371+123G>A	NP_001166600.1:n.1371+123G>A
NM_001173129.2:c.1371+123G>A	NP_001166600.1:n.1371+123G>A
NM_001308013.1:c.3033+123G>A	NP_001294942.1:n.3033+123G>A
NM_001308013.2:c.3033+123G>A	NP_001294942.1:n.3033+123G>A
NM_144612.6:c.6591G>A	NP_653213.6:p.Lys2197=
NM_144612.7:c.6591G>A	NP_653213.6:p.Lys2197=
ENST00000300591.10:c.3307+137G>A	ENSP00000300591.6:n.3307+137G>A
ENST00000300591.11:c.3307+137G>A	ENSP00000300591.6:n.3307+137G>A
ENST00000398686.8:c.1494G>A	ENSP00000381676.4:p.Lys498=
ENST00000398705.6:c.1371+123G>A	ENSP00000381692.2:n.1371+123G>A
ENST00000398705.7:c.1371+123G>A	ENSP00000381692.2:n.1371+123G>A
ENST00000441551.6:c.6159G>A	ENSP00000387621.2:p.Lys2053=
ENST00000536736.5:c.6591G>A	ENSP00000444586.1:p.Lys2197=
ENST00000579038.5:c.3033+123G>A	ENSP00000463285.1:n.3033+123G>A
ENST00000579038.6:c.3033+123G>A	ENSP00000463285.1:n.3033+123G>A
ENST00000582408.5:c.3258G>A	ENSP00000461964.1:p.Lys1086=
ENST00000582408.6:c.3258G>A	ENSP00000461964.1:p.Lys1086=
XM_006722388.2:c.3576G>A	XP_006722451.1:p.Lys1192=
XM_006722388.3:c.3576G>A	XP_006722451.1:p.Lys1192=
XM_006722389.2:c.3444G>A	XP_006722452.1:p.Lys1148=
XM_006722389.3:c.3444G>A	XP_006722452.1:p.Lys1148=
XM_006722390.2:c.3444G>A	XP_006722453.1:p.Lys1148=
XM_006722390.3:c.3444G>A	XP_006722453.1:p.Lys1148=
XM_006722391.2:c.3390G>A	XP_006722454.1:p.Lys1130=
XM_006722391.3:c.3390G>A	XP_006722454.1:p.Lys1130=
XM_011525803.1:c.6777G>A	XP_011524105.1:p.Lys2259=
XM_011525804.1:c.4938G>A	XP_011524106.1:p.Lys1646=
XM_011525804.2:c.4938G>A	XP_011524106.1:p.Lys1646=
XM_011525805.1:c.3441G>A	XP_011524107.1:p.Lys1147=
XM_011525806.1:c.3156G>A	XP_011524108.1:p.Lys1052=
XM_011525807.1:c.3156G>A	XP_011524109.1:p.Lys1052=
XM_011525809.1:c.3156G>A	XP_011524111.1:p.Lys1052=
XM_011525810.1:c.1545G>A	XP_011524112.1:p.Lys515=
XM_011525810.2:c.1545G>A	XP_011524112.1:p.Lys515=
XM_011525811.1:c.1494G>A	XP_011524113.1:p.Lys498=
XM_011525811.2:c.1494G>A	XP_011524113.1:p.Lys498=
XM_017025548.1:c.6159G>A	XP_016881037.1:p.Lys2053=
XM_024451084.1:c.5259G>A	XP_024306852.1:p.Lys1753=
XM_024451085.1:c.3441G>A	XP_024306853.1:p.Lys1147=
XM_024451086.1:c.3156G>A	XP_024306854.1:p.Lys1052=
XM_024451087.1:c.3156G>A	XP_024306855.1:p.Lys1052=
XM_024451088.1:c.3156G>A	XP_024306856.1:p.Lys1052=