Canonical Allele Identifier: CA1746659
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86089914G>C , CM000664.2:g.86089914G>C GRCh38
NC_000002.11:g.86317037G>C , CM000664.1:g.86317037G>C GRCh37
NC_000002.10:g.86170548G>C NCBI36
NG_050742.2:g.21242C>G

Transcript Alleles

HGVS Amino-acid Change
NM_015425.6:c.448C>G MANE Select NP_056240.2:p.Pro150Ala
ENST00000263857.11:c.448C>G MANE Select ENSP00000263857.6:p.Pro150Ala
NM_015425.3:c.448C>G NP_056240.2:p.Pro150Ala
NM_015425.5:c.448C>G NP_056240.2:p.Pro150Ala
ENST00000263857.10:c.448C>G ENSP00000263857.6:p.Pro150Ala
ENST00000409024.3:c.93C>G ENSP00000386423.3:p.Ile31Met
ENST00000409681.1:c.448C>G ENSP00000386300.1:p.Pro150Ala
ENST00000424089.5:c.93C>G ENSP00000397321.1:p.Ile31Met
ENST00000486964.5:n.545C>G
ENST00000683266.1:n.550C>G
ENST00000683470.1:n.260C>G
ENST00000684026.1:n.562C>G
ENST00000684177.1:n.552C>G
ENST00000684556.1:n.362C>G
XM_006711983.2:c.124C>G XP_006712046.1:p.Pro42Ala