Canonical Allele Identifier: CA358362
Gene: NUDT15 HGNC NCBI

Linked Data

ClinVar Variation Id: 225202
ClinVar RCV Id: RCV000210847
dbSNP Id: rs147390019

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045720G>A , CM000675.2:g.48045720G>A GRCh38
NC_000013.10:g.48619856G>A , CM000675.1:g.48619856G>A GRCh37
NC_000013.9:g.47517857G>A NCBI36
NG_047021.1:g.13154G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258662.3:c.416G>A MANE Select ENSP00000258662.1:p.Arg139His
ENST00000258662.2:c.416G>A ENSP00000258662.1:p.Arg139His
NM_018283.2:c.416G>A NP_060753.1:p.Arg139His
NM_018283.3:c.416G>A NP_060753.1:p.Arg139His
NR_136687.1:n.596G>A
NR_136688.1:n.596G>A
NM_018283.4:c.416G>A MANE Select NP_060753.1:p.Arg139His
NR_136687.2:n.437G>A
NR_136688.2:n.437G>A