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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:
CA355537302
Gene: TNFSF10
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.172224304A>C (hg19)
chr3:g.172506514A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.172506514A>C , CM000665.2:g.172506514A>C
GRCh38
NC_000003.11:g.172224304A>C , CM000665.1:g.172224304A>C
GRCh37
NC_000003.10:g.173706998A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000241261.7:c.824T>G
MANE Select
ENSP00000241261.2:p.Phe275Cys
ENST00000241261.6:c.824T>G
ENSP00000241261.2:p.Phe275Cys
ENST00000420541.6:c.*370T>G
ENSP00000389931.2:n.*370T>G
NM_001190942.1:c.*370T>G
NP_001177871.1:n.*370T>G
NM_003810.3:c.824T>G
NP_003801.1:p.Phe275Cys
NR_033994.1:n.904T>G
NM_003810.4:c.824T>G
MANE Select
NP_003801.1:p.Phe275Cys
NM_001190942.2:c.*370T>G
NP_001177871.1:n.*370T>G
NR_033994.2:n.827T>G
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