Canonical Allele Identifier: CA8952092

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46485122C>T , CM000680.2:g.46485122C>T	GRCh38
NC_000018.9:g.44065085C>T , CM000680.1:g.44065085C>T	GRCh37
NC_000018.8:g.42319083C>T	NCBI36
NG_016646.1:g.176912G>A
NG_016646.2:g.176912G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6079G>A MANE Select	NP_001371403.1:p.Gly2027Arg
ENST00000642948.1:c.6079G>A MANE Select	ENSP00000496347.1:p.Gly2027Arg
NM_001145472.2:c.2746G>A	NP_001138944.1:p.Gly916Arg
NM_001145472.3:c.2746G>A	NP_001138944.1:p.Gly916Arg
NM_001145473.2:c.796G>A	NP_001138945.1:p.Gly266Arg
NM_001145473.3:c.796G>A	NP_001138945.1:p.Gly266Arg
NM_001173129.1:c.796G>A	NP_001166600.1:p.Gly266Arg
NM_001173129.2:c.796G>A	NP_001166600.1:p.Gly266Arg
NM_001308013.1:c.2458G>A	NP_001294942.1:p.Gly820Arg
NM_001308013.2:c.2458G>A	NP_001294942.1:p.Gly820Arg
NM_144612.6:c.5893G>A	NP_653213.6:p.Gly1965Arg
NM_144612.7:c.5893G>A	NP_653213.6:p.Gly1965Arg
ENST00000300591.10:c.2746G>A	ENSP00000300591.6:p.Gly916Arg
ENST00000300591.11:c.2746G>A	ENSP00000300591.6:p.Gly916Arg
ENST00000398686.8:c.796G>A	ENSP00000381676.4:p.Gly266Arg
ENST00000398705.6:c.796G>A	ENSP00000381692.2:p.Gly266Arg
ENST00000398705.7:c.796G>A	ENSP00000381692.2:p.Gly266Arg
ENST00000441551.6:c.5461G>A	ENSP00000387621.2:p.Gly1821Arg
ENST00000536736.5:c.5893G>A	ENSP00000444586.1:p.Gly1965Arg
ENST00000579038.5:c.2458G>A	ENSP00000463285.1:p.Gly820Arg
ENST00000579038.6:c.2458G>A	ENSP00000463285.1:p.Gly820Arg
ENST00000582408.5:c.2560G>A	ENSP00000461964.1:p.Gly854Arg
ENST00000582408.6:c.2560G>A	ENSP00000461964.1:p.Gly854Arg
XM_006722388.2:c.2878G>A	XP_006722451.1:p.Gly960Arg
XM_006722388.3:c.2878G>A	XP_006722451.1:p.Gly960Arg
XM_006722389.2:c.2746G>A	XP_006722452.1:p.Gly916Arg
XM_006722389.3:c.2746G>A	XP_006722452.1:p.Gly916Arg
XM_006722390.2:c.2746G>A	XP_006722453.1:p.Gly916Arg
XM_006722390.3:c.2746G>A	XP_006722453.1:p.Gly916Arg
XM_006722391.2:c.2692G>A	XP_006722454.1:p.Gly898Arg
XM_006722391.3:c.2692G>A	XP_006722454.1:p.Gly898Arg
XM_011525803.1:c.6079G>A	XP_011524105.1:p.Gly2027Arg
XM_011525804.1:c.4240G>A	XP_011524106.1:p.Gly1414Arg
XM_011525804.2:c.4240G>A	XP_011524106.1:p.Gly1414Arg
XM_011525805.1:c.2743G>A	XP_011524107.1:p.Gly915Arg
XM_011525806.1:c.2458G>A	XP_011524108.1:p.Gly820Arg
XM_011525807.1:c.2458G>A	XP_011524109.1:p.Gly820Arg
XM_011525809.1:c.2458G>A	XP_011524111.1:p.Gly820Arg
XM_011525810.1:c.847G>A	XP_011524112.1:p.Gly283Arg
XM_011525810.2:c.847G>A	XP_011524112.1:p.Gly283Arg
XM_011525811.1:c.796G>A	XP_011524113.1:p.Gly266Arg
XM_011525811.2:c.796G>A	XP_011524113.1:p.Gly266Arg
XM_017025548.1:c.5461G>A	XP_016881037.1:p.Gly1821Arg
XM_024451084.1:c.4561G>A	XP_024306852.1:p.Gly1521Arg
XM_024451085.1:c.2743G>A	XP_024306853.1:p.Gly915Arg
XM_024451086.1:c.2458G>A	XP_024306854.1:p.Gly820Arg
XM_024451087.1:c.2458G>A	XP_024306855.1:p.Gly820Arg
XM_024451088.1:c.2458G>A	XP_024306856.1:p.Gly820Arg