Canonical Allele Identifier: CA427147078
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86257397T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030274T>G , CM000664.2:g.86030274T>G GRCh38
NC_000002.11:g.86257397T>G , CM000664.1:g.86257397T>G GRCh37
NC_000002.10:g.86110908T>G NCBI36
NG_050742.2:g.80882A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4701A>C MANE Select ENSP00000263857.6:p.Thr1567=
ENST00000263857.10:c.4701A>C ENSP00000263857.6:p.Thr1567=
ENST00000409681.1:c.4518A>C ENSP00000386300.1:p.Thr1506=
NM_015425.3:c.4701A>C NP_056240.2:p.Thr1567=
XM_006711983.2:c.4377A>C XP_006712046.1:p.Thr1459=
NM_015425.5:c.4701A>C NP_056240.2:p.Thr1567=
NM_015425.6:c.4701A>C MANE Select NP_056240.2:p.Thr1567=