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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:
CA347545446
Gene: POLR1A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.86257416C>A (hg19)
chr2:g.86030293C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.86030293C>A , CM000664.2:g.86030293C>A
GRCh38
NC_000002.11:g.86257416C>A , CM000664.1:g.86257416C>A
GRCh37
NC_000002.10:g.86110927C>A
NCBI36
NG_050742.2:g.80863G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000263857.11:c.4682G>T
MANE Select
ENSP00000263857.6:p.Arg1561Leu
ENST00000263857.10:c.4682G>T
ENSP00000263857.6:p.Arg1561Leu
ENST00000409681.1:c.4499G>T
ENSP00000386300.1:p.Arg1500Leu
NM_015425.3:c.4682G>T
NP_056240.2:p.Arg1561Leu
XM_006711983.2:c.4358G>T
XP_006712046.1:p.Arg1453Leu
NM_015425.5:c.4682G>T
NP_056240.2:p.Arg1561Leu
NM_015425.6:c.4682G>T
MANE Select
NP_056240.2:p.Arg1561Leu
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