Canonical Allele Identifier: CA402378877

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46579640-T-C
• MyVariant Identifiers: chr18:g.44159603T>C (hg19) ; chr18:g.46579640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579640T>C , CM000680.2:g.46579640T>C	GRCh38
NC_000018.9:g.44159603T>C , CM000680.1:g.44159603T>C	GRCh37
NC_000018.8:g.42413601T>C	NCBI36
NG_016646.1:g.82394A>G
NG_016646.2:g.82394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1799A>G MANE Select	ENSP00000496347.1:p.Glu600Gly
ENST00000335730.6:n.1112A>G
ENST00000441551.6:c.1799A>G	ENSP00000387621.2:p.Glu600Gly
ENST00000536736.5:c.1799A>G	ENSP00000444586.1:p.Glu600Gly
NM_144612.6:c.1799A>G	NP_653213.6:p.Glu600Gly
XM_011525803.1:c.1799A>G	XP_011524105.1:p.Glu600Gly
XM_011525804.1:c.-30-1773A>G	XP_011524106.1:n.-30-1773A>G
XM_011525804.2:c.-30-1773A>G	XP_011524106.1:n.-30-1773A>G
XM_017025548.1:c.1799A>G	XP_016881037.1:p.Glu600Gly
XM_024451084.1:c.281A>G	XP_024306852.1:p.Glu94Gly
NM_001384474.1:c.1799A>G MANE Select	NP_001371403.1:p.Glu600Gly
NM_144612.7:c.1799A>G	NP_653213.6:p.Glu600Gly