Canonical Allele Identifier: CA1745427
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1472422
ClinVar RCV Id: RCV002004991
dbSNP Id: rs185258869
ExAC: 2:86257417 G / A
gnomAD v2: 2-86257417-G-A
gnomAD v3: 2-86030294-G-A
gnomAD v4: 2-86030294-G-A
COSMIC: COSM1136736
MyVariant Identifiers: chr2:g.86257417G>A (hg19) chr2:g.86030294G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030294G>A , CM000664.2:g.86030294G>A GRCh38
NC_000002.11:g.86257417G>A , CM000664.1:g.86257417G>A GRCh37
NC_000002.10:g.86110928G>A NCBI36
NG_050742.2:g.80862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4681C>T MANE Select ENSP00000263857.6:p.Arg1561Trp
ENST00000263857.10:c.4681C>T ENSP00000263857.6:p.Arg1561Trp
ENST00000409681.1:c.4498C>T ENSP00000386300.1:p.Arg1500Trp
NM_015425.3:c.4681C>T NP_056240.2:p.Arg1561Trp
XM_006711983.2:c.4357C>T XP_006712046.1:p.Arg1453Trp
NM_015425.5:c.4681C>T NP_056240.2:p.Arg1561Trp
NM_015425.6:c.4681C>T MANE Select NP_056240.2:p.Arg1561Trp
Search 100 bp 5'
Search 100 bp 3'