Canonical Allele Identifier: CA629502371

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1473824899
• gnomAD v2: 18-44152003-G-C
• gnomAD v4: 18-46572040-G-C
• MyVariant Identifiers: chr18:g.44152003G>C (hg19) ; chr18:g.46572040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572040G>C , CM000680.2:g.46572040G>C	GRCh38
NC_000018.9:g.44152003G>C , CM000680.1:g.44152003G>C	GRCh37
NC_000018.8:g.42406001G>C	NCBI36
NG_016646.1:g.89994C>G
NG_016646.2:g.89994C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2047+46C>G MANE Select	ENSP00000496347.1:n.2047+46C>G
ENST00000335730.6:n.1360+46C>G
ENST00000441551.6:c.2047+46C>G	ENSP00000387621.2:n.2047+46C>G
ENST00000536736.5:c.2047+46C>G	ENSP00000444586.1:n.2047+46C>G
NM_144612.6:c.2047+46C>G	NP_653213.6:n.2047+46C>G
XM_011525803.1:c.2047+46C>G	XP_011524105.1:n.2047+46C>G
XM_011525804.1:c.208+46C>G	XP_011524106.1:n.208+46C>G
XM_011525804.2:c.208+46C>G	XP_011524106.1:n.208+46C>G
XM_017025548.1:c.2047+46C>G	XP_016881037.1:n.2047+46C>G
XM_024451084.1:c.529+46C>G	XP_024306852.1:n.529+46C>G
NM_001384474.1:c.2047+46C>G MANE Select	NP_001371403.1:n.2047+46C>G
NM_144612.7:c.2047+46C>G	NP_653213.6:n.2047+46C>G