Canonical Allele Identifier: CA1745710
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs187988949
ExAC: 2:86267541 C / T
gnomAD v3: 2-86040418-C-T
gnomAD v4: 2-86040418-C-T
MyVariant Identifiers: chr2:g.86267541C>T (hg19) chr2:g.86040418C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040418C>T , CM000664.2:g.86040418C>T GRCh38
NC_000002.11:g.86267541C>T , CM000664.1:g.86267541C>T GRCh37
NC_000002.10:g.86121052C>T NCBI36
NG_050742.2:g.70738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3714G>A MANE Select ENSP00000263857.6:p.Glu1238=
ENST00000263857.10:c.3714G>A ENSP00000263857.6:p.Glu1238=
ENST00000409681.1:c.3714G>A ENSP00000386300.1:p.Glu1238=
ENST00000462078.1:n.102G>A
NM_015425.3:c.3714G>A NP_056240.2:p.Glu1238=
XM_006711983.2:c.3390G>A XP_006712046.1:p.Glu1130=
NM_015425.5:c.3714G>A NP_056240.2:p.Glu1238=
NM_015425.6:c.3714G>A MANE Select NP_056240.2:p.Glu1238=
Search 100 bp 5'
Search 100 bp 3'