Canonical Allele Identifier: CA402362291

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477561C>T , CM000680.2:g.46477561C>T	GRCh38
NC_000018.9:g.44057524C>T , CM000680.1:g.44057524C>T	GRCh37
NC_000018.8:g.42311522C>T	NCBI36
NG_016646.1:g.184473G>A
NG_016646.2:g.184473G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6733G>A MANE Select	NP_001371403.1:p.Gly2245Ser
ENST00000642948.1:c.6733G>A MANE Select	ENSP00000496347.1:p.Gly2245Ser
NM_001145472.2:c.3307+93G>A	NP_001138944.1:n.3307+93G>A
NM_001145472.3:c.3307+93G>A	NP_001138944.1:n.3307+93G>A
NM_001145473.2:c.1450G>A	NP_001138945.1:p.Gly484Ser
NM_001145473.3:c.1450G>A	NP_001138945.1:p.Gly484Ser
NM_001173129.1:c.1371+79G>A	NP_001166600.1:n.1371+79G>A
NM_001173129.2:c.1371+79G>A	NP_001166600.1:n.1371+79G>A
NM_001308013.1:c.3033+79G>A	NP_001294942.1:n.3033+79G>A
NM_001308013.2:c.3033+79G>A	NP_001294942.1:n.3033+79G>A
NM_144612.6:c.6547G>A	NP_653213.6:p.Gly2183Ser
NM_144612.7:c.6547G>A	NP_653213.6:p.Gly2183Ser
ENST00000300591.10:c.3307+93G>A	ENSP00000300591.6:n.3307+93G>A
ENST00000300591.11:c.3307+93G>A	ENSP00000300591.6:n.3307+93G>A
ENST00000398686.8:c.1450G>A	ENSP00000381676.4:p.Gly484Ser
ENST00000398705.6:c.1371+79G>A	ENSP00000381692.2:n.1371+79G>A
ENST00000398705.7:c.1371+79G>A	ENSP00000381692.2:n.1371+79G>A
ENST00000441551.6:c.6115G>A	ENSP00000387621.2:p.Gly2039Ser
ENST00000536736.5:c.6547G>A	ENSP00000444586.1:p.Gly2183Ser
ENST00000579038.5:c.3033+79G>A	ENSP00000463285.1:n.3033+79G>A
ENST00000579038.6:c.3033+79G>A	ENSP00000463285.1:n.3033+79G>A
ENST00000582408.5:c.3214G>A	ENSP00000461964.1:p.Gly1072Ser
ENST00000582408.6:c.3214G>A	ENSP00000461964.1:p.Gly1072Ser
XM_006722388.2:c.3532G>A	XP_006722451.1:p.Gly1178Ser
XM_006722388.3:c.3532G>A	XP_006722451.1:p.Gly1178Ser
XM_006722389.2:c.3400G>A	XP_006722452.1:p.Gly1134Ser
XM_006722389.3:c.3400G>A	XP_006722452.1:p.Gly1134Ser
XM_006722390.2:c.3400G>A	XP_006722453.1:p.Gly1134Ser
XM_006722390.3:c.3400G>A	XP_006722453.1:p.Gly1134Ser
XM_006722391.2:c.3346G>A	XP_006722454.1:p.Gly1116Ser
XM_006722391.3:c.3346G>A	XP_006722454.1:p.Gly1116Ser
XM_011525803.1:c.6733G>A	XP_011524105.1:p.Gly2245Ser
XM_011525804.1:c.4894G>A	XP_011524106.1:p.Gly1632Ser
XM_011525804.2:c.4894G>A	XP_011524106.1:p.Gly1632Ser
XM_011525805.1:c.3397G>A	XP_011524107.1:p.Gly1133Ser
XM_011525806.1:c.3112G>A	XP_011524108.1:p.Gly1038Ser
XM_011525807.1:c.3112G>A	XP_011524109.1:p.Gly1038Ser
XM_011525809.1:c.3112G>A	XP_011524111.1:p.Gly1038Ser
XM_011525810.1:c.1501G>A	XP_011524112.1:p.Gly501Ser
XM_011525810.2:c.1501G>A	XP_011524112.1:p.Gly501Ser
XM_011525811.1:c.1450G>A	XP_011524113.1:p.Gly484Ser
XM_011525811.2:c.1450G>A	XP_011524113.1:p.Gly484Ser
XM_017025548.1:c.6115G>A	XP_016881037.1:p.Gly2039Ser
XM_024451084.1:c.5215G>A	XP_024306852.1:p.Gly1739Ser
XM_024451085.1:c.3397G>A	XP_024306853.1:p.Gly1133Ser
XM_024451086.1:c.3112G>A	XP_024306854.1:p.Gly1038Ser
XM_024451087.1:c.3112G>A	XP_024306855.1:p.Gly1038Ser
XM_024451088.1:c.3112G>A	XP_024306856.1:p.Gly1038Ser