Canonical Allele Identifier: CA6978314
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs757230015
ExAC: 13:48619797 T / C
gnomAD v2: 13-48619797-T-C
gnomAD v4: 13-48045661-T-C
COSMIC: COSM3469138
MyVariant Identifiers: chr13:g.48619797T>C (hg19) chr13:g.48045661T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045661T>C , CM000675.2:g.48045661T>C GRCh38
NC_000013.10:g.48619797T>C , CM000675.1:g.48619797T>C GRCh37
NC_000013.9:g.47517798T>C NCBI36
NG_047021.1:g.13095T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258662.3:c.357T>C MANE Select ENSP00000258662.1:p.Ser119=
ENST00000258662.2:c.357T>C ENSP00000258662.1:p.Ser119=
NM_018283.2:c.357T>C NP_060753.1:p.Ser119=
NM_018283.3:c.357T>C NP_060753.1:p.Ser119=
NR_136687.1:n.537T>C
NR_136688.1:n.537T>C
NM_018283.4:c.357T>C MANE Select NP_060753.1:p.Ser119=
NR_136687.2:n.378T>C
NR_136688.2:n.378T>C
Search 100 bp 5'
Search 100 bp 3'