Canonical Allele Identifier: CA2300898131
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.1729C= MANE Select ENSP00000496347.1:p.Leu577=
ENST00000335730.6:n.1042C=
ENST00000441551.6:c.1729C= ENSP00000387621.2:p.Leu577=
ENST00000536736.5:c.1729C= ENSP00000444586.1:p.Leu577=
NM_144612.6:c.1729C= NP_653213.6:p.Leu577=
XM_011525803.1:c.1729C= XP_011524105.1:p.Leu577=
XM_011525804.1:c.-30-1843C= XP_011524106.1:n.-30-1843C=
XM_011525804.2:c.-30-1843C= XP_011524106.1:n.-30-1843C=
XM_017025548.1:c.1729C= XP_016881037.1:p.Leu577=
XM_024451084.1:c.211C= XP_024306852.1:p.Leu71=
NM_001384474.1:c.1729C= MANE Select NP_001371403.1:p.Leu577=
NM_144612.7:c.1729C= NP_653213.6:p.Leu577=