Canonical Allele Identifier: CA427147178
Gene: POLR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.86257469C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030346C>G , CM000664.2:g.86030346C>G GRCh38
NC_000002.11:g.86257469C>G , CM000664.1:g.86257469C>G GRCh37
NC_000002.10:g.86110980C>G NCBI36
NG_050742.2:g.80810G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4629G>C MANE Select ENSP00000263857.6:p.Leu1543=
ENST00000263857.10:c.4629G>C ENSP00000263857.6:p.Leu1543=
ENST00000409681.1:c.4446G>C ENSP00000386300.1:p.Leu1482=
NM_015425.3:c.4629G>C NP_056240.2:p.Leu1543=
XM_006711983.2:c.4305G>C XP_006712046.1:p.Leu1435=
NM_015425.5:c.4629G>C NP_056240.2:p.Leu1543=
NM_015425.6:c.4629G>C MANE Select NP_056240.2:p.Leu1543=