Canonical Allele Identifier: CA273647
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179755
ClinVar RCV Id: RCV000156553 RCV000803391 RCV001277221
dbSNP Id: rs727505104
gnomAD v2: 18-44139458-G-A
gnomAD v3: 18-46559495-G-A
gnomAD v4: 18-46559495-G-A
MyVariant Identifiers: chr18:g.44139458G>A (hg19) chr18:g.46559495G>A (hg38)
PubMed: PMID:19732867 PMID:21465660
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46559495G>A , CM000680.2:g.46559495G>A GRCh38
NC_000018.9:g.44139458G>A , CM000680.1:g.44139458G>A GRCh37
NC_000018.8:g.42393456G>A NCBI36
NG_016646.1:g.102539C>T
NG_016646.2:g.102539C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.3169C>T MANE Select ENSP00000496347.1:p.Arg1057Ter
ENST00000335730.6:n.2482C>T
ENST00000441551.6:c.2599-2006C>T ENSP00000387621.2:n.2599-2006C>T
ENST00000536736.5:c.3169C>T ENSP00000444586.1:p.Arg1057Ter
NM_144612.6:c.3169C>T NP_653213.6:p.Arg1057Ter
XM_011525803.1:c.3169C>T XP_011524105.1:p.Arg1057Ter
XM_011525804.1:c.1330C>T XP_011524106.1:p.Arg444Ter
XM_011525804.2:c.1330C>T XP_011524106.1:p.Arg444Ter
XM_017025548.1:c.2599-2006C>T XP_016881037.1:n.2599-2006C>T
XM_024451084.1:c.1651C>T XP_024306852.1:p.Arg551Ter
NM_001384474.1:c.3169C>T MANE Select NP_001371403.1:p.Arg1057Ter
NM_144612.7:c.3169C>T NP_653213.6:p.Arg1057Ter
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