Canonical Allele Identifier: CA2622969275
Gene: NUDT15 HGNC NCBI

Linked Data

gnomAD v4: 13-48046013-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48046013G>T , CM000675.2:g.48046013G>T GRCh38
NC_000013.10:g.48620149G>T , CM000675.1:g.48620149G>T GRCh37
NC_000013.9:g.47518150G>T NCBI36
NG_047021.1:g.13447G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*214G>T MANE Select ENSP00000258662.1:n.*214G>T
ENST00000258662.2:c.*214G>T ENSP00000258662.1:n.*214G>T
NM_018283.2:c.*214G>T NP_060753.1:n.*214G>T
NM_018283.3:c.*214G>T NP_060753.1:n.*214G>T
NR_136687.1:n.718+171G>T
NR_136688.1:n.675+214G>T
NM_018283.4:c.*214G>T MANE Select NP_060753.1:n.*214G>T
NR_136687.2:n.559+171G>T
NR_136688.2:n.516+214G>T
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