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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:
CA338849322
Gene: CDA
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.20945059T>C (hg19)
chr1:g.20618566T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20618566T>C , CM000663.2:g.20618566T>C
GRCh38
NC_000001.10:g.20945059T>C , CM000663.1:g.20945059T>C
GRCh37
NC_000001.9:g.20817646T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000375071.4:c.439T>C
MANE Select
ENSP00000364212.3:p.Ter147Arg
ENST00000375071.3:c.439T>C
ENSP00000364212.3:p.Ter147Arg
ENST00000461985.1:n.425T>C
NM_001785.2:c.439T>C
NP_001776.1:p.Ter147Arg
NM_001785.3:c.439T>C
MANE Select
NP_001776.1:p.Ter147Arg
Search 100 bp 5'
Search 100 bp 3'