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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA388154058
Gene: NUDT15
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr13:g.48619800G>T (hg19)
chr13:g.48045664G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48045664G>T , CM000675.2:g.48045664G>T
GRCh38
NC_000013.10:g.48619800G>T , CM000675.1:g.48619800G>T
GRCh37
NC_000013.9:g.47517801G>T
NCBI36
NG_047021.1:g.13098G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000258662.3:c.360G>T
MANE Select
ENSP00000258662.1:p.Trp120Cys
ENST00000258662.2:c.360G>T
ENSP00000258662.1:p.Trp120Cys
NM_018283.2:c.360G>T
NP_060753.1:p.Trp120Cys
NM_018283.3:c.360G>T
NP_060753.1:p.Trp120Cys
NR_136687.1:n.540G>T
NR_136688.1:n.540G>T
NM_018283.4:c.360G>T
MANE Select
NP_060753.1:p.Trp120Cys
NR_136687.2:n.381G>T
NR_136688.2:n.381G>T
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