Canonical Allele Identifier: CA402376557

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 2582964
• ClinVar RCV Id: RCV003334207
• gnomAD v4: 18-46572164-T-C
• MyVariant Identifiers: chr18:g.44152127T>C (hg19) ; chr18:g.46572164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46572164T>C , CM000680.2:g.46572164T>C	GRCh38
NC_000018.9:g.44152127T>C , CM000680.1:g.44152127T>C	GRCh37
NC_000018.8:g.42406125T>C	NCBI36
NG_016646.1:g.89870A>G
NG_016646.2:g.89870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1971-2A>G MANE Select	ENSP00000496347.1:n.1971-2A>G
ENST00000335730.6:n.1284-2A>G
ENST00000441551.6:c.1971-2A>G	ENSP00000387621.2:n.1971-2A>G
ENST00000536736.5:c.1971-2A>G	ENSP00000444586.1:n.1971-2A>G
NM_144612.6:c.1971-2A>G	NP_653213.6:n.1971-2A>G
XM_011525803.1:c.1971-2A>G	XP_011524105.1:n.1971-2A>G
XM_011525804.1:c.132-2A>G	XP_011524106.1:n.132-2A>G
XM_011525804.2:c.132-2A>G	XP_011524106.1:n.132-2A>G
XM_017025548.1:c.1971-2A>G	XP_016881037.1:n.1971-2A>G
XM_024451084.1:c.453-2A>G	XP_024306852.1:n.453-2A>G
NM_001384474.1:c.1971-2A>G MANE Select	NP_001371403.1:n.1971-2A>G
NM_144612.7:c.1971-2A>G	NP_653213.6:n.1971-2A>G