Canonical Allele Identifier: CA402378981

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2195677
• ClinVar RCV Id: RCV002650893
• dbSNP Id: rs747842788
• gnomAD v2: 18-44159651-G-C
• gnomAD v3: 18-46579688-G-C
• gnomAD v4: 18-46579688-G-C
• MyVariant Identifiers: chr18:g.44159651G>C (hg19) ; chr18:g.46579688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579688G>C , CM000680.2:g.46579688G>C	GRCh38
NC_000018.9:g.44159651G>C , CM000680.1:g.44159651G>C	GRCh37
NC_000018.8:g.42413649G>C	NCBI36
NG_016646.1:g.82346C>G
NG_016646.2:g.82346C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.1751C>G MANE Select	ENSP00000496347.1:p.Thr584Arg
ENST00000335730.6:n.1064C>G
ENST00000441551.6:c.1751C>G	ENSP00000387621.2:p.Thr584Arg
ENST00000536736.5:c.1751C>G	ENSP00000444586.1:p.Thr584Arg
NM_144612.6:c.1751C>G	NP_653213.6:p.Thr584Arg
XM_011525803.1:c.1751C>G	XP_011524105.1:p.Thr584Arg
XM_011525804.1:c.-30-1821C>G	XP_011524106.1:n.-30-1821C>G
XM_011525804.2:c.-30-1821C>G	XP_011524106.1:n.-30-1821C>G
XM_017025548.1:c.1751C>G	XP_016881037.1:p.Thr584Arg
XM_024451084.1:c.233C>G	XP_024306852.1:p.Thr78Arg
NM_001384474.1:c.1751C>G MANE Select	NP_001371403.1:p.Thr584Arg
NM_144612.7:c.1751C>G	NP_653213.6:p.Thr584Arg