Canonical Allele Identifier: CA2300888717
Community Standard Title: NM_001384474.1(LOXHD1):c.3169C= (p.Arg1057=)
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46559495G= , CM000680.2:g.46559495G= GRCh38
NC_000018.9:g.44139458G= , CM000680.1:g.44139458G= GRCh37
NC_000018.8:g.42393456G= NCBI36
NG_016646.1:g.102539C=
NG_016646.2:g.102539C=

Transcript Alleles

HGVS Amino-acid Change
NM_001384474.1:c.3169C= MANE Select NP_001371403.1:p.Arg1057=
ENST00000642948.1:c.3169C= MANE Select ENSP00000496347.1:p.Arg1057=
NM_144612.6:c.3169C= NP_653213.6:p.Arg1057=
NM_144612.7:c.3169C= NP_653213.6:p.Arg1057=
ENST00000335730.6:n.2482C=
ENST00000441551.6:c.2599-2006C= ENSP00000387621.2:n.2599-2006C=
ENST00000536736.5:c.3169C= ENSP00000444586.1:p.Arg1057=
XM_011525803.1:c.3169C= XP_011524105.1:p.Arg1057=
XM_011525804.1:c.1330C= XP_011524106.1:p.Arg444=
XM_011525804.2:c.1330C= XP_011524106.1:p.Arg444=
XM_017025548.1:c.2599-2006C= XP_016881037.1:n.2599-2006C=
XM_024451084.1:c.1651C= XP_024306852.1:p.Arg551=