Canonical Allele Identifier: CA427147017
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1580372
ClinVar RCV Id: RCV002094806
dbSNP Id: rs1672360044
gnomAD v4: 2-86030232-T-C
MyVariant Identifiers: chr2:g.86257355T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030232T>C , CM000664.2:g.86030232T>C GRCh38
NC_000002.11:g.86257355T>C , CM000664.1:g.86257355T>C GRCh37
NC_000002.10:g.86110866T>C NCBI36
NG_050742.2:g.80924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4743A>G MANE Select ENSP00000263857.6:p.Glu1581=
ENST00000263857.10:c.4743A>G ENSP00000263857.6:p.Glu1581=
ENST00000409681.1:c.4560A>G ENSP00000386300.1:p.Glu1520=
NM_015425.3:c.4743A>G NP_056240.2:p.Glu1581=
XM_006711983.2:c.4419A>G XP_006712046.1:p.Glu1473=
NM_015425.5:c.4743A>G NP_056240.2:p.Glu1581=
NM_015425.6:c.4743A>G MANE Select NP_056240.2:p.Glu1581=
Search 100 bp 5'
Search 100 bp 3'