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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:
CA389147206
Gene: RNASE3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr14:g.21360249T>A (hg19)
chr14:g.20892090T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20892090T>A , CM000676.2:g.20892090T>A
GRCh38
NC_000014.8:g.21360249T>A , CM000676.1:g.21360249T>A
GRCh37
NC_000014.7:g.20430089T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000304639.4:c.404T>A
MANE Select
ENSP00000302324.3:p.Val135Glu
ENST00000304639.3:c.404T>A
ENSP00000302324.3:p.Val135Glu
NM_002935.2:c.404T>A
NP_002926.2:p.Val135Glu
XR_110261.2:n.209-16347A>T
XR_110261.3:n.726-16347A>T
NM_002935.3:c.404T>A
MANE Select
NP_002926.2:p.Val135Glu
Search 100 bp 5'
Search 100 bp 3'