Canonical Allele Identifier: CA299794248

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 523622
• ClinVar RCV Id: RCV000627051 ; RCV000809830 ; RCV001277223 ; RCV001375172
• dbSNP Id: rs537227442
• gnomAD v2: 18-44140045-C-T
• gnomAD v3: 18-46560082-C-T
• gnomAD v4: 18-46560082-C-T
• MyVariant Identifiers: chr18:g.44140045C>T (hg19) ; chr18:g.46560082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46560082C>T , CM000680.2:g.46560082C>T	GRCh38
NC_000018.9:g.44140045C>T , CM000680.1:g.44140045C>T	GRCh37
NC_000018.8:g.42394043C>T	NCBI36
NG_016646.1:g.101952G>A
NG_016646.2:g.101952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.3061+1G>A MANE Select	ENSP00000496347.1:n.3061+1G>A
ENST00000335730.6:n.2374+1G>A
ENST00000441551.6:c.2599-2593G>A	ENSP00000387621.2:n.2599-2593G>A
ENST00000536736.5:c.3061+1G>A	ENSP00000444586.1:n.3061+1G>A
NM_144612.6:c.3061+1G>A	NP_653213.6:n.3061+1G>A
XM_011525803.1:c.3061+1G>A	XP_011524105.1:n.3061+1G>A
XM_011525804.1:c.1222+1G>A	XP_011524106.1:n.1222+1G>A
XM_011525804.2:c.1222+1G>A	XP_011524106.1:n.1222+1G>A
XM_017025548.1:c.2599-2593G>A	XP_016881037.1:n.2599-2593G>A
XM_024451084.1:c.1543+1G>A	XP_024306852.1:n.1543+1G>A
NM_001384474.1:c.3061+1G>A MANE Select	NP_001371403.1:n.3061+1G>A
NM_144612.7:c.3061+1G>A	NP_653213.6:n.3061+1G>A