Canonical Allele Identifier: CA2622969220
Gene: NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48045942-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045942T>C , CM000675.2:g.48045942T>C GRCh38
NC_000013.10:g.48620078T>C , CM000675.1:g.48620078T>C GRCh37
NC_000013.9:g.47518079T>C NCBI36
NG_047021.1:g.13376T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*143T>C MANE Select ENSP00000258662.1:n.*143T>C
ENST00000258662.2:c.*143T>C ENSP00000258662.1:n.*143T>C
NM_018283.2:c.*143T>C NP_060753.1:n.*143T>C
NM_018283.3:c.*143T>C NP_060753.1:n.*143T>C
NR_136687.1:n.718+100T>C
NR_136688.1:n.675+143T>C
NM_018283.4:c.*143T>C MANE Select NP_060753.1:n.*143T>C
NR_136687.2:n.559+100T>C
NR_136688.2:n.516+143T>C
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