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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:
CA351073451
Gene: UGT1A8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.234527099C>G (hg19)
chr2:g.233618453C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233618453C>G , CM000664.2:g.233618453C>G
GRCh38
NC_000002.11:g.234527099C>G , CM000664.1:g.234527099C>G
GRCh37
NC_000002.10:g.234191838C>G
NCBI36
NG_002601.2:g.33710C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373450.5:c.746C>G
MANE Select
ENSP00000362549.4:p.Ser249Ter
ENST00000373450.4:c.746C>G
ENSP00000362549.4:p.Ser249Ter
NM_019076.4:c.746C>G
NP_061949.3:p.Ser249Ter
NM_019076.5:c.746C>G
MANE Select
NP_061949.3:p.Ser249Ter
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