Canonical Allele Identifier: CA347545420
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030279C>T , CM000664.2:g.86030279C>T GRCh38
NC_000002.11:g.86257402C>T , CM000664.1:g.86257402C>T GRCh37
NC_000002.10:g.86110913C>T NCBI36
NG_050742.2:g.80877G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4696G>A MANE Select ENSP00000263857.6:p.Glu1566Lys
ENST00000263857.10:c.4696G>A ENSP00000263857.6:p.Glu1566Lys
ENST00000409681.1:c.4513G>A ENSP00000386300.1:p.Glu1505Lys
NM_015425.3:c.4696G>A NP_056240.2:p.Glu1566Lys
XM_006711983.2:c.4372G>A XP_006712046.1:p.Glu1458Lys
NM_015425.5:c.4696G>A NP_056240.2:p.Glu1566Lys
NM_015425.6:c.4696G>A MANE Select NP_056240.2:p.Glu1566Lys