Canonical Allele Identifier: CA2300898104

Gene: LOXHD1

Linked Data

• dbSNP Id: rs2037925601

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579662dup , CM000680.2:g.46579662dup	GRCh38
NC_000018.9:g.44159625dup , CM000680.1:g.44159625dup	GRCh37
NC_000018.8:g.42413623dup	NCBI36
NG_016646.1:g.82372dup
NG_016646.2:g.82372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1777dup MANE Select	ENSP00000496347.1:p.Arg593LysfsTer3
ENST00000335730.6:n.1090dup
ENST00000441551.6:c.1777dup	ENSP00000387621.2:p.Arg593LysfsTer3
ENST00000536736.5:c.1777dup	ENSP00000444586.1:p.Arg593LysfsTer3
NM_144612.6:c.1777dup	NP_653213.6:p.Arg593LysfsTer3
XM_011525803.1:c.1777dup	XP_011524105.1:p.Arg593LysfsTer3
XM_011525804.1:c.-30-1795dup	XP_011524106.1:n.-30-1795dup
XM_011525804.2:c.-30-1795dup	XP_011524106.1:n.-30-1795dup
XM_017025548.1:c.1777dup	XP_016881037.1:p.Arg593LysfsTer3
XM_024451084.1:c.259dup	XP_024306852.1:p.Arg87LysfsTer3
NM_001384474.1:c.1777dup MANE Select	NP_001371403.1:p.Arg593LysfsTer3
NM_144612.7:c.1777dup	NP_653213.6:p.Arg593LysfsTer3