Canonical Allele Identifier: CA1745415
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs754707018
ExAC: 2:86257337 C / A
gnomAD v2: 2-86257337-C-A
gnomAD v4: 2-86030214-C-A
MyVariant Identifiers: chr2:g.86257337C>A (hg19) chr2:g.86030214C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030214C>A , CM000664.2:g.86030214C>A GRCh38
NC_000002.11:g.86257337C>A , CM000664.1:g.86257337C>A GRCh37
NC_000002.10:g.86110848C>A NCBI36
NG_050742.2:g.80942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4761G>T MANE Select ENSP00000263857.6:p.Glu1587Asp
ENST00000263857.10:c.4761G>T ENSP00000263857.6:p.Glu1587Asp
ENST00000409681.1:c.4578G>T ENSP00000386300.1:p.Glu1526Asp
NM_015425.3:c.4761G>T NP_056240.2:p.Glu1587Asp
XM_006711983.2:c.4437G>T XP_006712046.1:p.Glu1479Asp
NM_015425.5:c.4761G>T NP_056240.2:p.Glu1587Asp
NM_015425.6:c.4761G>T MANE Select NP_056240.2:p.Glu1587Asp
Search 100 bp 5'
Search 100 bp 3'