Canonical Allele Identifier: CA2622969263
Gene: NUDT15 HGNC NCBI

Linked Data

dbSNP Id: rs2137805183
gnomAD v4: 13-48045992-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48045992T>C , CM000675.2:g.48045992T>C GRCh38
NC_000013.10:g.48620128T>C , CM000675.1:g.48620128T>C GRCh37
NC_000013.9:g.47518129T>C NCBI36
NG_047021.1:g.13426T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258662.3:c.*193T>C MANE Select ENSP00000258662.1:n.*193T>C
ENST00000258662.2:c.*193T>C ENSP00000258662.1:n.*193T>C
NM_018283.2:c.*193T>C NP_060753.1:n.*193T>C
NM_018283.3:c.*193T>C NP_060753.1:n.*193T>C
NR_136687.1:n.718+150T>C
NR_136688.1:n.675+193T>C
NM_018283.4:c.*193T>C MANE Select NP_060753.1:n.*193T>C
NR_136687.2:n.559+150T>C
NR_136688.2:n.516+193T>C
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