Canonical Allele Identifier: CA402378879

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1724631
• ClinVar RCV Id: RCV002309899
• MyVariant Identifiers: chr18:g.44159604C>A (hg19) ; chr18:g.46579641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579641C>A , CM000680.2:g.46579641C>A	GRCh38
NC_000018.9:g.44159604C>A , CM000680.1:g.44159604C>A	GRCh37
NC_000018.8:g.42413602C>A	NCBI36
NG_016646.1:g.82393G>T
NG_016646.2:g.82393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1798G>T MANE Select	ENSP00000496347.1:p.Glu600Ter
ENST00000335730.6:n.1111G>T
ENST00000441551.6:c.1798G>T	ENSP00000387621.2:p.Glu600Ter
ENST00000536736.5:c.1798G>T	ENSP00000444586.1:p.Glu600Ter
NM_144612.6:c.1798G>T	NP_653213.6:p.Glu600Ter
XM_011525803.1:c.1798G>T	XP_011524105.1:p.Glu600Ter
XM_011525804.1:c.-30-1774G>T	XP_011524106.1:n.-30-1774G>T
XM_011525804.2:c.-30-1774G>T	XP_011524106.1:n.-30-1774G>T
XM_017025548.1:c.1798G>T	XP_016881037.1:p.Glu600Ter
XM_024451084.1:c.280G>T	XP_024306852.1:p.Glu94Ter
NM_001384474.1:c.1798G>T MANE Select	NP_001371403.1:p.Glu600Ter
NM_144612.7:c.1798G>T	NP_653213.6:p.Glu600Ter