Canonical Allele Identifier: CA249274238
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs111793948
gnomAD v2: 13-48620041-C-A
gnomAD v3: 13-48045905-C-A
gnomAD v4: 13-48045905-C-A
MyVariant Identifiers: chr13:g.48620041C>A (hg19) chr13:g.48045905C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045905C>A , CM000675.2:g.48045905C>A GRCh38
NC_000013.10:g.48620041C>A , CM000675.1:g.48620041C>A GRCh37
NC_000013.9:g.47518042C>A NCBI36
NG_047021.1:g.13339C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*106C>A MANE Select ENSP00000258662.1:n.*106C>A
ENST00000258662.2:c.*106C>A ENSP00000258662.1:n.*106C>A
NM_018283.2:c.*106C>A NP_060753.1:n.*106C>A
NM_018283.3:c.*106C>A NP_060753.1:n.*106C>A
NR_136687.1:n.718+63C>A
NR_136688.1:n.675+106C>A
NM_018283.4:c.*106C>A MANE Select NP_060753.1:n.*106C>A
NR_136687.2:n.559+63C>A
NR_136688.2:n.516+106C>A
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