Canonical Allele Identifier: CA347545373
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3216436
ClinVar RCV Id: RCV004512321
dbSNP Id: rs1375451262
gnomAD v2: 2-86257381-C-T
gnomAD v4: 2-86030258-C-T
MyVariant Identifiers: chr2:g.86257381C>T (hg19) chr2:g.86030258C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030258C>T , CM000664.2:g.86030258C>T GRCh38
NC_000002.11:g.86257381C>T , CM000664.1:g.86257381C>T GRCh37
NC_000002.10:g.86110892C>T NCBI36
NG_050742.2:g.80898G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4717G>A MANE Select ENSP00000263857.6:p.Glu1573Lys
ENST00000263857.10:c.4717G>A ENSP00000263857.6:p.Glu1573Lys
ENST00000409681.1:c.4534G>A ENSP00000386300.1:p.Glu1512Lys
NM_015425.3:c.4717G>A NP_056240.2:p.Glu1573Lys
XM_006711983.2:c.4393G>A XP_006712046.1:p.Glu1465Lys
NM_015425.5:c.4717G>A NP_056240.2:p.Glu1573Lys
NM_015425.6:c.4717G>A MANE Select NP_056240.2:p.Glu1573Lys
Search 100 bp 5'
Search 100 bp 3'