Canonical Allele Identifier: CA503808078

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46483628A>G , CM000680.2:g.46483628A>G	GRCh38
NC_000018.9:g.44063591A>G , CM000680.1:g.44063591A>G	GRCh37
NC_000018.8:g.42317589A>G	NCBI36
NG_016646.1:g.178406T>C
NG_016646.2:g.178406T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6300T>C MANE Select	NP_001371403.1:p.His2100=
ENST00000642948.1:c.6300T>C MANE Select	ENSP00000496347.1:p.His2100=
NM_001145472.2:c.2967T>C	NP_001138944.1:p.His989=
NM_001145472.3:c.2967T>C	NP_001138944.1:p.His989=
NM_001145473.2:c.1017T>C	NP_001138945.1:p.His339=
NM_001145473.3:c.1017T>C	NP_001138945.1:p.His339=
NM_001173129.1:c.1017T>C	NP_001166600.1:p.His339=
NM_001173129.2:c.1017T>C	NP_001166600.1:p.His339=
NM_001308013.1:c.2679T>C	NP_001294942.1:p.His893=
NM_001308013.2:c.2679T>C	NP_001294942.1:p.His893=
NM_144612.6:c.6114T>C	NP_653213.6:p.His2038=
NM_144612.7:c.6114T>C	NP_653213.6:p.His2038=
ENST00000300591.10:c.2967T>C	ENSP00000300591.6:p.His989=
ENST00000300591.11:c.2967T>C	ENSP00000300591.6:p.His989=
ENST00000398686.8:c.1017T>C	ENSP00000381676.4:p.His339=
ENST00000398705.6:c.1017T>C	ENSP00000381692.2:p.His339=
ENST00000398705.7:c.1017T>C	ENSP00000381692.2:p.His339=
ENST00000441551.6:c.5682T>C	ENSP00000387621.2:p.His1894=
ENST00000536736.5:c.6114T>C	ENSP00000444586.1:p.His2038=
ENST00000579038.5:c.2679T>C	ENSP00000463285.1:p.His893=
ENST00000579038.6:c.2679T>C	ENSP00000463285.1:p.His893=
ENST00000582408.5:c.2781T>C	ENSP00000461964.1:p.His927=
ENST00000582408.6:c.2781T>C	ENSP00000461964.1:p.His927=
XM_006722388.2:c.3099T>C	XP_006722451.1:p.His1033=
XM_006722388.3:c.3099T>C	XP_006722451.1:p.His1033=
XM_006722389.2:c.2967T>C	XP_006722452.1:p.His989=
XM_006722389.3:c.2967T>C	XP_006722452.1:p.His989=
XM_006722390.2:c.2967T>C	XP_006722453.1:p.His989=
XM_006722390.3:c.2967T>C	XP_006722453.1:p.His989=
XM_006722391.2:c.2913T>C	XP_006722454.1:p.His971=
XM_006722391.3:c.2913T>C	XP_006722454.1:p.His971=
XM_011525803.1:c.6300T>C	XP_011524105.1:p.His2100=
XM_011525804.1:c.4461T>C	XP_011524106.1:p.His1487=
XM_011525804.2:c.4461T>C	XP_011524106.1:p.His1487=
XM_011525805.1:c.2964T>C	XP_011524107.1:p.His988=
XM_011525806.1:c.2679T>C	XP_011524108.1:p.His893=
XM_011525807.1:c.2679T>C	XP_011524109.1:p.His893=
XM_011525809.1:c.2679T>C	XP_011524111.1:p.His893=
XM_011525810.1:c.1068T>C	XP_011524112.1:p.His356=
XM_011525810.2:c.1068T>C	XP_011524112.1:p.His356=
XM_011525811.1:c.1017T>C	XP_011524113.1:p.His339=
XM_011525811.2:c.1017T>C	XP_011524113.1:p.His339=
XM_017025548.1:c.5682T>C	XP_016881037.1:p.His1894=
XM_024451084.1:c.4782T>C	XP_024306852.1:p.His1594=
XM_024451085.1:c.2964T>C	XP_024306853.1:p.His988=
XM_024451086.1:c.2679T>C	XP_024306854.1:p.His893=
XM_024451087.1:c.2679T>C	XP_024306855.1:p.His893=
XM_024451088.1:c.2679T>C	XP_024306856.1:p.His893=