Canonical Allele Identifier: CA347545514
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030328A>T , CM000664.2:g.86030328A>T GRCh38
NC_000002.11:g.86257451A>T , CM000664.1:g.86257451A>T GRCh37
NC_000002.10:g.86110962A>T NCBI36
NG_050742.2:g.80828T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4647T>A MANE Select ENSP00000263857.6:p.His1549Gln
ENST00000263857.10:c.4647T>A ENSP00000263857.6:p.His1549Gln
ENST00000409681.1:c.4464T>A ENSP00000386300.1:p.His1488Gln
NM_015425.3:c.4647T>A NP_056240.2:p.His1549Gln
XM_006711983.2:c.4323T>A XP_006712046.1:p.His1441Gln
NM_015425.5:c.4647T>A NP_056240.2:p.His1549Gln
NM_015425.6:c.4647T>A MANE Select NP_056240.2:p.His1549Gln