Canonical Allele Identifier: CA10586234
Gene: NUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 253197
ClinVar RCV Id: RCV000239673 RCV001253663 RCV001262137
dbSNP Id: rs886037858
gnomAD v2: 6-118028165-G-A
gnomAD v4: 6-117707002-G-A
MyVariant Identifiers: chr6:g.118028165G>A (hg19) chr6:g.117707002G>A (hg38)
PubMed: PMID:25066056
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117707002G>A , CM000668.2:g.117707002G>A GRCh38
NC_000006.11:g.118028165G>A , CM000668.1:g.118028165G>A GRCh37
NC_000006.10:g.118134858G>A NCBI36
NG_054913.1:g.36549G>A
NG_054913.2:g.36549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368494.4:c.869G>A MANE Select ENSP00000357480.3:p.Arg290His
ENST00000368494.3:c.869G>A ENSP00000357480.3:p.Arg290His
NM_138459.3:c.869G>A NP_612468.1:p.Arg290His
NM_138459.4:c.869G>A NP_612468.1:p.Arg290His
NM_138459.5:c.869G>A MANE Select NP_612468.1:p.Arg290His
Search 100 bp 5'
Search 100 bp 3'