Canonical Allele Identifier: CA347545264
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030209A>G , CM000664.2:g.86030209A>G GRCh38
NC_000002.11:g.86257332A>G , CM000664.1:g.86257332A>G GRCh37
NC_000002.10:g.86110843A>G NCBI36
NG_050742.2:g.80947T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4766T>C MANE Select ENSP00000263857.6:p.Phe1589Ser
ENST00000263857.10:c.4766T>C ENSP00000263857.6:p.Phe1589Ser
ENST00000409681.1:c.4583T>C ENSP00000386300.1:p.Phe1528Ser
NM_015425.3:c.4766T>C NP_056240.2:p.Phe1589Ser
XM_006711983.2:c.4442T>C XP_006712046.1:p.Phe1481Ser
NM_015425.5:c.4766T>C NP_056240.2:p.Phe1589Ser
NM_015425.6:c.4766T>C MANE Select NP_056240.2:p.Phe1589Ser