Canonical Allele Identifier: CA1745713
Gene: POLR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 786861
ClinVar RCV Id: RCV000968985
dbSNP Id: rs36051710
ExAC: 2:86267586 G / A
gnomAD v2: 2-86267586-G-A
gnomAD v3: 2-86040463-G-A
gnomAD v4: 2-86040463-G-A
MyVariant Identifiers: chr2:g.86267586G>A (hg19) chr2:g.86040463G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040463G>A , CM000664.2:g.86040463G>A GRCh38
NC_000002.11:g.86267586G>A , CM000664.1:g.86267586G>A GRCh37
NC_000002.10:g.86121097G>A NCBI36
NG_050742.2:g.70693C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3669C>T MANE Select ENSP00000263857.6:p.Ser1223=
ENST00000263857.10:c.3669C>T ENSP00000263857.6:p.Ser1223=
ENST00000409681.1:c.3669C>T ENSP00000386300.1:p.Ser1223=
ENST00000462078.1:n.57C>T
NM_015425.3:c.3669C>T NP_056240.2:p.Ser1223=
XM_006711983.2:c.3345C>T XP_006712046.1:p.Ser1115=
NM_015425.5:c.3669C>T NP_056240.2:p.Ser1223=
NM_015425.6:c.3669C>T MANE Select NP_056240.2:p.Ser1223=
Search 100 bp 5'
Search 100 bp 3'