Canonical Allele Identifier: CA347545507
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030326-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030326C>A , CM000664.2:g.86030326C>A GRCh38
NC_000002.11:g.86257449C>A , CM000664.1:g.86257449C>A GRCh37
NC_000002.10:g.86110960C>A NCBI36
NG_050742.2:g.80830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4649G>T MANE Select ENSP00000263857.6:p.Gly1550Val
ENST00000263857.10:c.4649G>T ENSP00000263857.6:p.Gly1550Val
ENST00000409681.1:c.4466G>T ENSP00000386300.1:p.Gly1489Val
NM_015425.3:c.4649G>T NP_056240.2:p.Gly1550Val
XM_006711983.2:c.4325G>T XP_006712046.1:p.Gly1442Val
NM_015425.5:c.4649G>T NP_056240.2:p.Gly1550Val
NM_015425.6:c.4649G>T MANE Select NP_056240.2:p.Gly1550Val