Canonical Allele Identifier: CA249274261
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs933684356
gnomAD v2: 13-48620107-A-C
gnomAD v3: 13-48045971-A-C
gnomAD v4: 13-48045971-A-C
MyVariant Identifiers: chr13:g.48620107A>C (hg19) chr13:g.48045971A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045971A>C , CM000675.2:g.48045971A>C GRCh38
NC_000013.10:g.48620107A>C , CM000675.1:g.48620107A>C GRCh37
NC_000013.9:g.47518108A>C NCBI36
NG_047021.1:g.13405A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*172A>C MANE Select ENSP00000258662.1:n.*172A>C
ENST00000258662.2:c.*172A>C ENSP00000258662.1:n.*172A>C
NM_018283.2:c.*172A>C NP_060753.1:n.*172A>C
NM_018283.3:c.*172A>C NP_060753.1:n.*172A>C
NR_136687.1:n.718+129A>C
NR_136688.1:n.675+172A>C
NM_018283.4:c.*172A>C MANE Select NP_060753.1:n.*172A>C
NR_136687.2:n.559+129A>C
NR_136688.2:n.516+172A>C
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