Canonical Allele Identifier: CA142212

Gene: LOXHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46557437C>T , CM000680.2:g.46557437C>T	GRCh38
NC_000018.9:g.44137400C>T , CM000680.1:g.44137400C>T	GRCh37
NC_000018.8:g.42391398C>T	NCBI36
NG_016646.1:g.104597G>A
NG_016646.2:g.104597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.-65G>A	ENSP00000300591.6:n.-65G>A
ENST00000582408.6:c.-65G>A	ENSP00000461964.1:n.-65G>A
ENST00000642948.1:c.3269G>A MANE Select	ENSP00000496347.1:p.Arg1090Gln
ENST00000300591.10:c.-65G>A	ENSP00000300591.6:n.-65G>A
ENST00000335730.6:n.2582G>A
ENST00000419859.1:c.-65G>A	ENSP00000412568.1:n.-65G>A
ENST00000441551.6:c.2651G>A	ENSP00000387621.2:p.Arg884Gln
ENST00000536736.5:c.3269G>A	ENSP00000444586.1:p.Arg1090Gln
ENST00000582408.5:c.-65G>A	ENSP00000461964.1:n.-65G>A
NM_001145472.2:c.-65G>A	NP_001138944.1:n.-65G>A
NM_144612.6:c.3269G>A	NP_653213.6:p.Arg1090Gln
XM_006722388.2:c.68G>A	XP_006722451.1:p.Arg23Gln
XM_006722389.2:c.-65G>A	XP_006722452.1:n.-65G>A
XM_006722390.2:c.-65G>A	XP_006722453.1:n.-65G>A
XM_006722391.2:c.68G>A	XP_006722454.1:p.Arg23Gln
XM_011525803.1:c.3269G>A	XP_011524105.1:p.Arg1090Gln
XM_011525804.1:c.1430G>A	XP_011524106.1:p.Arg477Gln
XM_011525807.1:c.-189G>A	XP_011524109.1:n.-189G>A
XM_006722388.3:c.68G>A	XP_006722451.1:p.Arg23Gln
XM_006722389.3:c.-65G>A	XP_006722452.1:n.-65G>A
XM_006722390.3:c.-65G>A	XP_006722453.1:n.-65G>A
XM_006722391.3:c.68G>A	XP_006722454.1:p.Arg23Gln
XM_011525804.2:c.1430G>A	XP_011524106.1:p.Arg477Gln
XM_017025548.1:c.2651G>A	XP_016881037.1:p.Arg884Gln
XM_024451084.1:c.1751G>A	XP_024306852.1:p.Arg584Gln
XM_024451087.1:c.-189G>A	XP_024306855.1:n.-189G>A
NM_001145472.3:c.-65G>A	NP_001138944.1:n.-65G>A
NM_001384474.1:c.3269G>A MANE Select	NP_001371403.1:p.Arg1090Gln
NM_144612.7:c.3269G>A	NP_653213.6:p.Arg1090Gln