Canonical Allele Identifier: CA402378922

Gene: LOXHD1

Linked Data

• gnomAD v4: 18-46579660-C-A
• MyVariant Identifiers: chr18:g.44159623C>A (hg19) ; chr18:g.46579660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579660C>A , CM000680.2:g.46579660C>A	GRCh38
NC_000018.9:g.44159623C>A , CM000680.1:g.44159623C>A	GRCh37
NC_000018.8:g.42413621C>A	NCBI36
NG_016646.1:g.82374G>T
NG_016646.2:g.82374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1779G>T MANE Select	ENSP00000496347.1:p.Arg593Ser
ENST00000335730.6:n.1092G>T
ENST00000441551.6:c.1779G>T	ENSP00000387621.2:p.Arg593Ser
ENST00000536736.5:c.1779G>T	ENSP00000444586.1:p.Arg593Ser
NM_144612.6:c.1779G>T	NP_653213.6:p.Arg593Ser
XM_011525803.1:c.1779G>T	XP_011524105.1:p.Arg593Ser
XM_011525804.1:c.-30-1793G>T	XP_011524106.1:n.-30-1793G>T
XM_011525804.2:c.-30-1793G>T	XP_011524106.1:n.-30-1793G>T
XM_017025548.1:c.1779G>T	XP_016881037.1:p.Arg593Ser
XM_024451084.1:c.261G>T	XP_024306852.1:p.Arg87Ser
NM_001384474.1:c.1779G>T MANE Select	NP_001371403.1:p.Arg593Ser
NM_144612.7:c.1779G>T	NP_653213.6:p.Arg593Ser