Canonical Allele Identifier: CA402379124

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1521433
• ClinVar RCV Id: RCV002046301
• dbSNP Id: rs2144147729
• gnomAD v4: 18-46579755-C-G
• MyVariant Identifiers: chr18:g.44159718C>G (hg19) ; chr18:g.46579755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579755C>G , CM000680.2:g.46579755C>G	GRCh38
NC_000018.9:g.44159718C>G , CM000680.1:g.44159718C>G	GRCh37
NC_000018.8:g.42413716C>G	NCBI36
NG_016646.1:g.82279G>C
NG_016646.2:g.82279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1684G>C MANE Select	ENSP00000496347.1:p.Gly562Arg
ENST00000335730.6:n.997G>C
ENST00000441551.6:c.1684G>C	ENSP00000387621.2:p.Gly562Arg
ENST00000536736.5:c.1684G>C	ENSP00000444586.1:p.Gly562Arg
NM_144612.6:c.1684G>C	NP_653213.6:p.Gly562Arg
XM_011525803.1:c.1684G>C	XP_011524105.1:p.Gly562Arg
XM_011525804.1:c.-30-1888G>C	XP_011524106.1:n.-30-1888G>C
XM_011525804.2:c.-30-1888G>C	XP_011524106.1:n.-30-1888G>C
XM_017025548.1:c.1684G>C	XP_016881037.1:p.Gly562Arg
XM_024451084.1:c.166G>C	XP_024306852.1:p.Gly56Arg
NM_001384474.1:c.1684G>C MANE Select	NP_001371403.1:p.Gly562Arg
NM_144612.7:c.1684G>C	NP_653213.6:p.Gly562Arg