Canonical Allele Identifier: CA347545290
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030222G>T , CM000664.2:g.86030222G>T GRCh38
NC_000002.11:g.86257345G>T , CM000664.1:g.86257345G>T GRCh37
NC_000002.10:g.86110856G>T NCBI36
NG_050742.2:g.80934C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4753C>A MANE Select ENSP00000263857.6:p.Leu1585Ile
ENST00000263857.10:c.4753C>A ENSP00000263857.6:p.Leu1585Ile
ENST00000409681.1:c.4570C>A ENSP00000386300.1:p.Leu1524Ile
NM_015425.3:c.4753C>A NP_056240.2:p.Leu1585Ile
XM_006711983.2:c.4429C>A XP_006712046.1:p.Leu1477Ile
NM_015425.5:c.4753C>A NP_056240.2:p.Leu1585Ile
NM_015425.6:c.4753C>A MANE Select NP_056240.2:p.Leu1585Ile