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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:
CA347545452
Gene: POLR1A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.86257420T>A (hg19)
chr2:g.86030297T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.86030297T>A , CM000664.2:g.86030297T>A
GRCh38
NC_000002.11:g.86257420T>A , CM000664.1:g.86257420T>A
GRCh37
NC_000002.10:g.86110931T>A
NCBI36
NG_050742.2:g.80859A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000263857.11:c.4678A>T
MANE Select
ENSP00000263857.6:p.Thr1560Ser
ENST00000263857.10:c.4678A>T
ENSP00000263857.6:p.Thr1560Ser
ENST00000409681.1:c.4495A>T
ENSP00000386300.1:p.Thr1499Ser
NM_015425.3:c.4678A>T
NP_056240.2:p.Thr1560Ser
XM_006711983.2:c.4354A>T
XP_006712046.1:p.Thr1452Ser
NM_015425.5:c.4678A>T
NP_056240.2:p.Thr1560Ser
NM_015425.6:c.4678A>T
MANE Select
NP_056240.2:p.Thr1560Ser
Search 100 bp 5'
Search 100 bp 3'