Canonical Allele Identifier: CA402379030

Gene: LOXHD1

Linked Data

• MyVariant Identifiers: chr18:g.44159673G>A (hg19) ; chr18:g.46579710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579710G>A , CM000680.2:g.46579710G>A	GRCh38
NC_000018.9:g.44159673G>A , CM000680.1:g.44159673G>A	GRCh37
NC_000018.8:g.42413671G>A	NCBI36
NG_016646.1:g.82324C>T
NG_016646.2:g.82324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1729C>T MANE Select	ENSP00000496347.1:p.Leu577Phe
ENST00000335730.6:n.1042C>T
ENST00000441551.6:c.1729C>T	ENSP00000387621.2:p.Leu577Phe
ENST00000536736.5:c.1729C>T	ENSP00000444586.1:p.Leu577Phe
NM_144612.6:c.1729C>T	NP_653213.6:p.Leu577Phe
XM_011525803.1:c.1729C>T	XP_011524105.1:p.Leu577Phe
XM_011525804.1:c.-30-1843C>T	XP_011524106.1:n.-30-1843C>T
XM_011525804.2:c.-30-1843C>T	XP_011524106.1:n.-30-1843C>T
XM_017025548.1:c.1729C>T	XP_016881037.1:p.Leu577Phe
XM_024451084.1:c.211C>T	XP_024306852.1:p.Leu71Phe
NM_001384474.1:c.1729C>T MANE Select	NP_001371403.1:p.Leu577Phe
NM_144612.7:c.1729C>T	NP_653213.6:p.Leu577Phe