Canonical Allele Identifier: CA503815457
Gene: LOXHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.44152092C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46572129C>G , CM000680.2:g.46572129C>G GRCh38
NC_000018.9:g.44152092C>G , CM000680.1:g.44152092C>G GRCh37
NC_000018.8:g.42406090C>G NCBI36
NG_016646.1:g.89905G>C
NG_016646.2:g.89905G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.2004G>C MANE Select ENSP00000496347.1:p.Leu668=
ENST00000335730.6:n.1317G>C
ENST00000441551.6:c.2004G>C ENSP00000387621.2:p.Leu668=
ENST00000536736.5:c.2004G>C ENSP00000444586.1:p.Leu668=
NM_144612.6:c.2004G>C NP_653213.6:p.Leu668=
XM_011525803.1:c.2004G>C XP_011524105.1:p.Leu668=
XM_011525804.1:c.165G>C XP_011524106.1:p.Leu55=
XM_011525804.2:c.165G>C XP_011524106.1:p.Leu55=
XM_017025548.1:c.2004G>C XP_016881037.1:p.Leu668=
XM_024451084.1:c.486G>C XP_024306852.1:p.Leu162=
NM_001384474.1:c.2004G>C MANE Select NP_001371403.1:p.Leu668=
NM_144612.7:c.2004G>C NP_653213.6:p.Leu668=