Canonical Allele Identifier: CA427147089
Gene: POLR1A HGNC NCBI

Linked Data

gnomAD v4: 2-86030283-C-T
MyVariant Identifiers: chr2:g.86257406C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030283C>T , CM000664.2:g.86030283C>T GRCh38
NC_000002.11:g.86257406C>T , CM000664.1:g.86257406C>T GRCh37
NC_000002.10:g.86110917C>T NCBI36
NG_050742.2:g.80873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4692G>A MANE Select ENSP00000263857.6:p.Leu1564=
ENST00000263857.10:c.4692G>A ENSP00000263857.6:p.Leu1564=
ENST00000409681.1:c.4509G>A ENSP00000386300.1:p.Leu1503=
NM_015425.3:c.4692G>A NP_056240.2:p.Leu1564=
XM_006711983.2:c.4368G>A XP_006712046.1:p.Leu1456=
NM_015425.5:c.4692G>A NP_056240.2:p.Leu1564=
NM_015425.6:c.4692G>A MANE Select NP_056240.2:p.Leu1564=