Canonical Allele Identifier: CA299797132

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46509472T>G , CM000680.2:g.46509472T>G	GRCh38
NC_000018.9:g.44089435T>G , CM000680.1:g.44089435T>G	GRCh37
NC_000018.8:g.42343433T>G	NCBI36
NG_016646.1:g.152562A>C
NG_016646.2:g.152562A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.2184+226A>C	ENSP00000300591.6:n.2184+226A>C
ENST00000398705.7:c.234+226A>C	ENSP00000381692.2:n.234+226A>C
ENST00000579038.6:c.1896+226A>C	ENSP00000463285.1:n.1896+226A>C
ENST00000582408.6:c.1998+226A>C	ENSP00000461964.1:n.1998+226A>C
ENST00000642948.1:c.5517+226A>C MANE Select	ENSP00000496347.1:n.5517+226A>C
ENST00000300591.10:c.2184+226A>C	ENSP00000300591.6:n.2184+226A>C
ENST00000398686.8:c.234+226A>C	ENSP00000381676.4:n.234+226A>C
ENST00000398705.6:c.234+226A>C	ENSP00000381692.2:n.234+226A>C
ENST00000414184.1:c.234+226A>C	ENSP00000392440.1:n.234+226A>C
ENST00000441551.6:c.4899+226A>C	ENSP00000387621.2:n.4899+226A>C
ENST00000536736.5:c.5331+226A>C	ENSP00000444586.1:n.5331+226A>C
ENST00000579038.5:c.1896+226A>C	ENSP00000463285.1:n.1896+226A>C
ENST00000582408.5:c.1998+226A>C	ENSP00000461964.1:n.1998+226A>C
NM_001145472.2:c.2184+226A>C	NP_001138944.1:n.2184+226A>C
NM_001145473.2:c.234+226A>C	NP_001138945.1:n.234+226A>C
NM_001173129.1:c.234+226A>C	NP_001166600.1:n.234+226A>C
NM_001308013.1:c.1896+226A>C	NP_001294942.1:n.1896+226A>C
NM_144612.6:c.5331+226A>C	NP_653213.6:n.5331+226A>C
XM_006722388.2:c.2316+226A>C	XP_006722451.1:n.2316+226A>C
XM_006722389.2:c.2184+226A>C	XP_006722452.1:n.2184+226A>C
XM_006722390.2:c.2184+226A>C	XP_006722453.1:n.2184+226A>C
XM_006722391.2:c.2130+226A>C	XP_006722454.1:n.2130+226A>C
XM_011525803.1:c.5517+226A>C	XP_011524105.1:n.5517+226A>C
XM_011525804.1:c.3678+226A>C	XP_011524106.1:n.3678+226A>C
XM_011525805.1:c.2181+226A>C	XP_011524107.1:n.2181+226A>C
XM_011525806.1:c.1896+226A>C	XP_011524108.1:n.1896+226A>C
XM_011525807.1:c.1896+226A>C	XP_011524109.1:n.1896+226A>C
XM_011525809.1:c.1896+226A>C	XP_011524111.1:n.1896+226A>C
XM_011525810.1:c.285+226A>C	XP_011524112.1:n.285+226A>C
XM_011525811.1:c.234+226A>C	XP_011524113.1:n.234+226A>C
XM_006722388.3:c.2316+226A>C	XP_006722451.1:n.2316+226A>C
XM_006722389.3:c.2184+226A>C	XP_006722452.1:n.2184+226A>C
XM_006722390.3:c.2184+226A>C	XP_006722453.1:n.2184+226A>C
XM_006722391.3:c.2130+226A>C	XP_006722454.1:n.2130+226A>C
XM_011525804.2:c.3678+226A>C	XP_011524106.1:n.3678+226A>C
XM_011525810.2:c.285+226A>C	XP_011524112.1:n.285+226A>C
XM_011525811.2:c.234+226A>C	XP_011524113.1:n.234+226A>C
XM_017025548.1:c.4899+226A>C	XP_016881037.1:n.4899+226A>C
XM_024451084.1:c.3999+226A>C	XP_024306852.1:n.3999+226A>C
XM_024451085.1:c.2181+226A>C	XP_024306853.1:n.2181+226A>C
XM_024451086.1:c.1896+226A>C	XP_024306854.1:n.1896+226A>C
XM_024451087.1:c.1896+226A>C	XP_024306855.1:n.1896+226A>C
XM_024451088.1:c.1896+226A>C	XP_024306856.1:n.1896+226A>C
NM_001145472.3:c.2184+226A>C	NP_001138944.1:n.2184+226A>C
NM_001145473.3:c.234+226A>C	NP_001138945.1:n.234+226A>C
NM_001173129.2:c.234+226A>C	NP_001166600.1:n.234+226A>C
NM_001308013.2:c.1896+226A>C	NP_001294942.1:n.1896+226A>C
NM_001384474.1:c.5517+226A>C MANE Select	NP_001371403.1:n.5517+226A>C
NM_144612.7:c.5331+226A>C	NP_653213.6:n.5331+226A>C