Canonical Allele Identifier: CA347545317
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030234C>A , CM000664.2:g.86030234C>A GRCh38
NC_000002.11:g.86257357C>A , CM000664.1:g.86257357C>A GRCh37
NC_000002.10:g.86110868C>A NCBI36
NG_050742.2:g.80922G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4741G>T MANE Select ENSP00000263857.6:p.Glu1581Ter
ENST00000263857.10:c.4741G>T ENSP00000263857.6:p.Glu1581Ter
ENST00000409681.1:c.4558G>T ENSP00000386300.1:p.Glu1520Ter
NM_015425.3:c.4741G>T NP_056240.2:p.Glu1581Ter
XM_006711983.2:c.4417G>T XP_006712046.1:p.Glu1473Ter
NM_015425.5:c.4741G>T NP_056240.2:p.Glu1581Ter
NM_015425.6:c.4741G>T MANE Select NP_056240.2:p.Glu1581Ter