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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:
CA389147194
Gene: RNASE3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr14:g.21360245T>A (hg19)
chr14:g.20892086T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20892086T>A , CM000676.2:g.20892086T>A
GRCh38
NC_000014.8:g.21360245T>A , CM000676.1:g.21360245T>A
GRCh37
NC_000014.7:g.20430085T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000304639.4:c.400T>A
MANE Select
ENSP00000302324.3:p.Tyr134Asn
ENST00000304639.3:c.400T>A
ENSP00000302324.3:p.Tyr134Asn
NM_002935.2:c.400T>A
NP_002926.2:p.Tyr134Asn
XR_110261.2:n.209-16343A>T
XR_110261.3:n.726-16343A>T
NM_002935.3:c.400T>A
MANE Select
NP_002926.2:p.Tyr134Asn
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