Canonical Allele Identifier: CA8952056

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46483595G>A , CM000680.2:g.46483595G>A	GRCh38
NC_000018.9:g.44063558G>A , CM000680.1:g.44063558G>A	GRCh37
NC_000018.8:g.42317556G>A	NCBI36
NG_016646.1:g.178439C>T
NG_016646.2:g.178439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.3000C>T	ENSP00000300591.6:p.Tyr1000=
ENST00000398705.7:c.1050C>T	ENSP00000381692.2:p.Tyr350=
ENST00000579038.6:c.2712C>T	ENSP00000463285.1:p.Tyr904=
ENST00000582408.6:c.2814C>T	ENSP00000461964.1:p.Tyr938=
ENST00000642948.1:c.6333C>T MANE Select	ENSP00000496347.1:p.Tyr2111=
ENST00000300591.10:c.3000C>T	ENSP00000300591.6:p.Tyr1000=
ENST00000398686.8:c.1050C>T	ENSP00000381676.4:p.Tyr350=
ENST00000398705.6:c.1050C>T	ENSP00000381692.2:p.Tyr350=
ENST00000441551.6:c.5715C>T	ENSP00000387621.2:p.Tyr1905=
ENST00000536736.5:c.6147C>T	ENSP00000444586.1:p.Tyr2049=
ENST00000579038.5:c.2712C>T	ENSP00000463285.1:p.Tyr904=
ENST00000582408.5:c.2814C>T	ENSP00000461964.1:p.Tyr938=
NM_001145472.2:c.3000C>T	NP_001138944.1:p.Tyr1000=
NM_001145473.2:c.1050C>T	NP_001138945.1:p.Tyr350=
NM_001173129.1:c.1050C>T	NP_001166600.1:p.Tyr350=
NM_001308013.1:c.2712C>T	NP_001294942.1:p.Tyr904=
NM_144612.6:c.6147C>T	NP_653213.6:p.Tyr2049=
XM_006722388.2:c.3132C>T	XP_006722451.1:p.Tyr1044=
XM_006722389.2:c.3000C>T	XP_006722452.1:p.Tyr1000=
XM_006722390.2:c.3000C>T	XP_006722453.1:p.Tyr1000=
XM_006722391.2:c.2946C>T	XP_006722454.1:p.Tyr982=
XM_011525803.1:c.6333C>T	XP_011524105.1:p.Tyr2111=
XM_011525804.1:c.4494C>T	XP_011524106.1:p.Tyr1498=
XM_011525805.1:c.2997C>T	XP_011524107.1:p.Tyr999=
XM_011525806.1:c.2712C>T	XP_011524108.1:p.Tyr904=
XM_011525807.1:c.2712C>T	XP_011524109.1:p.Tyr904=
XM_011525809.1:c.2712C>T	XP_011524111.1:p.Tyr904=
XM_011525810.1:c.1101C>T	XP_011524112.1:p.Tyr367=
XM_011525811.1:c.1050C>T	XP_011524113.1:p.Tyr350=
XM_006722388.3:c.3132C>T	XP_006722451.1:p.Tyr1044=
XM_006722389.3:c.3000C>T	XP_006722452.1:p.Tyr1000=
XM_006722390.3:c.3000C>T	XP_006722453.1:p.Tyr1000=
XM_006722391.3:c.2946C>T	XP_006722454.1:p.Tyr982=
XM_011525804.2:c.4494C>T	XP_011524106.1:p.Tyr1498=
XM_011525810.2:c.1101C>T	XP_011524112.1:p.Tyr367=
XM_011525811.2:c.1050C>T	XP_011524113.1:p.Tyr350=
XM_017025548.1:c.5715C>T	XP_016881037.1:p.Tyr1905=
XM_024451084.1:c.4815C>T	XP_024306852.1:p.Tyr1605=
XM_024451085.1:c.2997C>T	XP_024306853.1:p.Tyr999=
XM_024451086.1:c.2712C>T	XP_024306854.1:p.Tyr904=
XM_024451087.1:c.2712C>T	XP_024306855.1:p.Tyr904=
XM_024451088.1:c.2712C>T	XP_024306856.1:p.Tyr904=
NM_001145472.3:c.3000C>T	NP_001138944.1:p.Tyr1000=
NM_001145473.3:c.1050C>T	NP_001138945.1:p.Tyr350=
NM_001173129.2:c.1050C>T	NP_001166600.1:p.Tyr350=
NM_001308013.2:c.2712C>T	NP_001294942.1:p.Tyr904=
NM_001384474.1:c.6333C>T MANE Select	NP_001371403.1:p.Tyr2111=
NM_144612.7:c.6147C>T	NP_653213.6:p.Tyr2049=