Canonical Allele Identifier: CA503816987

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1544063
• ClinVar RCV Id: RCV002172703
• dbSNP Id: rs2144147692
• gnomAD v4: 18-46579744-T-C
• MyVariant Identifiers: chr18:g.44159707T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579744T>C , CM000680.2:g.46579744T>C	GRCh38
NC_000018.9:g.44159707T>C , CM000680.1:g.44159707T>C	GRCh37
NC_000018.8:g.42413705T>C	NCBI36
NG_016646.1:g.82290A>G
NG_016646.2:g.82290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1695A>G MANE Select	ENSP00000496347.1:p.Glu565=
ENST00000335730.6:n.1008A>G
ENST00000441551.6:c.1695A>G	ENSP00000387621.2:p.Glu565=
ENST00000536736.5:c.1695A>G	ENSP00000444586.1:p.Glu565=
NM_144612.6:c.1695A>G	NP_653213.6:p.Glu565=
XM_011525803.1:c.1695A>G	XP_011524105.1:p.Glu565=
XM_011525804.1:c.-30-1877A>G	XP_011524106.1:n.-30-1877A>G
XM_011525804.2:c.-30-1877A>G	XP_011524106.1:n.-30-1877A>G
XM_017025548.1:c.1695A>G	XP_016881037.1:p.Glu565=
XM_024451084.1:c.177A>G	XP_024306852.1:p.Glu59=
NM_001384474.1:c.1695A>G MANE Select	NP_001371403.1:p.Glu565=
NM_144612.7:c.1695A>G	NP_653213.6:p.Glu565=