Canonical Allele Identifier: CA503985748

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477730C>G , CM000680.2:g.46477730C>G	GRCh38
NC_000018.9:g.44057693C>G , CM000680.1:g.44057693C>G	GRCh37
NC_000018.8:g.42311691C>G	NCBI36
NG_016646.1:g.184304G>C
NG_016646.2:g.184304G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384474.1:c.6564G>C MANE Select	NP_001371403.1:p.Arg2188=
ENST00000642948.1:c.6564G>C MANE Select	ENSP00000496347.1:p.Arg2188=
NM_001145472.2:c.3231G>C	NP_001138944.1:p.Arg1077=
NM_001145472.3:c.3231G>C	NP_001138944.1:p.Arg1077=
NM_001145473.2:c.1281G>C	NP_001138945.1:p.Arg427=
NM_001145473.3:c.1281G>C	NP_001138945.1:p.Arg427=
NM_001173129.1:c.1281G>C	NP_001166600.1:p.Arg427=
NM_001173129.2:c.1281G>C	NP_001166600.1:p.Arg427=
NM_001308013.1:c.2943G>C	NP_001294942.1:p.Arg981=
NM_001308013.2:c.2943G>C	NP_001294942.1:p.Arg981=
NM_144612.6:c.6378G>C	NP_653213.6:p.Arg2126=
NM_144612.7:c.6378G>C	NP_653213.6:p.Arg2126=
ENST00000300591.10:c.3231G>C	ENSP00000300591.6:p.Arg1077=
ENST00000300591.11:c.3231G>C	ENSP00000300591.6:p.Arg1077=
ENST00000398686.8:c.1281G>C	ENSP00000381676.4:p.Arg427=
ENST00000398705.6:c.1281G>C	ENSP00000381692.2:p.Arg427=
ENST00000398705.7:c.1281G>C	ENSP00000381692.2:p.Arg427=
ENST00000441551.6:c.5946G>C	ENSP00000387621.2:p.Arg1982=
ENST00000536736.5:c.6378G>C	ENSP00000444586.1:p.Arg2126=
ENST00000579038.5:c.2943G>C	ENSP00000463285.1:p.Arg981=
ENST00000579038.6:c.2943G>C	ENSP00000463285.1:p.Arg981=
ENST00000582408.5:c.3045G>C	ENSP00000461964.1:p.Arg1015=
ENST00000582408.6:c.3045G>C	ENSP00000461964.1:p.Arg1015=
XM_006722388.2:c.3363G>C	XP_006722451.1:p.Arg1121=
XM_006722388.3:c.3363G>C	XP_006722451.1:p.Arg1121=
XM_006722389.2:c.3231G>C	XP_006722452.1:p.Arg1077=
XM_006722389.3:c.3231G>C	XP_006722452.1:p.Arg1077=
XM_006722390.2:c.3231G>C	XP_006722453.1:p.Arg1077=
XM_006722390.3:c.3231G>C	XP_006722453.1:p.Arg1077=
XM_006722391.2:c.3177G>C	XP_006722454.1:p.Arg1059=
XM_006722391.3:c.3177G>C	XP_006722454.1:p.Arg1059=
XM_011525803.1:c.6564G>C	XP_011524105.1:p.Arg2188=
XM_011525804.1:c.4725G>C	XP_011524106.1:p.Arg1575=
XM_011525804.2:c.4725G>C	XP_011524106.1:p.Arg1575=
XM_011525805.1:c.3228G>C	XP_011524107.1:p.Arg1076=
XM_011525806.1:c.2943G>C	XP_011524108.1:p.Arg981=
XM_011525807.1:c.2943G>C	XP_011524109.1:p.Arg981=
XM_011525809.1:c.2943G>C	XP_011524111.1:p.Arg981=
XM_011525810.1:c.1332G>C	XP_011524112.1:p.Arg444=
XM_011525810.2:c.1332G>C	XP_011524112.1:p.Arg444=
XM_011525811.1:c.1281G>C	XP_011524113.1:p.Arg427=
XM_011525811.2:c.1281G>C	XP_011524113.1:p.Arg427=
XM_017025548.1:c.5946G>C	XP_016881037.1:p.Arg1982=
XM_024451084.1:c.5046G>C	XP_024306852.1:p.Arg1682=
XM_024451085.1:c.3228G>C	XP_024306853.1:p.Arg1076=
XM_024451086.1:c.2943G>C	XP_024306854.1:p.Arg981=
XM_024451087.1:c.2943G>C	XP_024306855.1:p.Arg981=
XM_024451088.1:c.2943G>C	XP_024306856.1:p.Arg981=