Canonical Allele Identifier: CA2300894534
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46572033G= , CM000680.2:g.46572033G= GRCh38
NC_000018.9:g.44151996G= , CM000680.1:g.44151996G= GRCh37
NC_000018.8:g.42405994G= NCBI36
NG_016646.1:g.90001C=
NG_016646.2:g.90001C=

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.2047+53C= MANE Select ENSP00000496347.1:n.2047+53C=
ENST00000335730.6:n.1360+53C=
ENST00000441551.6:c.2047+53C= ENSP00000387621.2:n.2047+53C=
ENST00000536736.5:c.2047+53C= ENSP00000444586.1:n.2047+53C=
NM_144612.6:c.2047+53C= NP_653213.6:n.2047+53C=
XM_011525803.1:c.2047+53C= XP_011524105.1:n.2047+53C=
XM_011525804.1:c.208+53C= XP_011524106.1:n.208+53C=
XM_011525804.2:c.208+53C= XP_011524106.1:n.208+53C=
XM_017025548.1:c.2047+53C= XP_016881037.1:n.2047+53C=
XM_024451084.1:c.529+53C= XP_024306852.1:n.529+53C=
NM_001384474.1:c.2047+53C= MANE Select NP_001371403.1:n.2047+53C=
NM_144612.7:c.2047+53C= NP_653213.6:n.2047+53C=