Canonical Allele Identifier: CA2641673200
Gene: LOXHD1 HGNC NCBI

Linked Data

gnomAD v4: 18-46579585-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46579585G>T , CM000680.2:g.46579585G>T GRCh38
NC_000018.9:g.44159548G>T , CM000680.1:g.44159548G>T GRCh37
NC_000018.8:g.42413546G>T NCBI36
NG_016646.1:g.82449C>A
NG_016646.2:g.82449C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.1809+45C>A MANE Select ENSP00000496347.1:n.1809+45C>A
ENST00000335730.6:n.1122+45C>A
ENST00000441551.6:c.1809+45C>A ENSP00000387621.2:n.1809+45C>A
ENST00000536736.5:c.1809+45C>A ENSP00000444586.1:n.1809+45C>A
NM_144612.6:c.1809+45C>A NP_653213.6:n.1809+45C>A
XM_011525803.1:c.1809+45C>A XP_011524105.1:n.1809+45C>A
XM_011525804.1:c.-30-1718C>A XP_011524106.1:n.-30-1718C>A
XM_011525804.2:c.-30-1718C>A XP_011524106.1:n.-30-1718C>A
XM_017025548.1:c.1809+45C>A XP_016881037.1:n.1809+45C>A
XM_024451084.1:c.291+45C>A XP_024306852.1:n.291+45C>A
NM_001384474.1:c.1809+45C>A MANE Select NP_001371403.1:n.1809+45C>A
NM_144612.7:c.1809+45C>A NP_653213.6:n.1809+45C>A
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