Canonical Allele Identifier: CA249274276
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs943934716
gnomAD v3: 13-48046028-A-G
gnomAD v4: 13-48046028-A-G
MyVariant Identifiers: chr13:g.48620164A>G (hg19) chr13:g.48046028A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48046028A>G , CM000675.2:g.48046028A>G GRCh38
NC_000013.10:g.48620164A>G , CM000675.1:g.48620164A>G GRCh37
NC_000013.9:g.47518165A>G NCBI36
NG_047021.1:g.13462A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*229A>G MANE Select ENSP00000258662.1:n.*229A>G
ENST00000258662.2:c.*229A>G ENSP00000258662.1:n.*229A>G
NM_018283.2:c.*229A>G NP_060753.1:n.*229A>G
NM_018283.3:c.*229A>G NP_060753.1:n.*229A>G
NR_136687.1:n.718+186A>G
NR_136688.1:n.675+229A>G
NM_018283.4:c.*229A>G MANE Select NP_060753.1:n.*229A>G
NR_136687.2:n.559+186A>G
NR_136688.2:n.516+229A>G
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