Canonical Allele Identifier: CA347545513
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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