Canonical Allele Identifier: CA347545446
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030293C>A , CM000664.2:g.86030293C>A GRCh38
NC_000002.11:g.86257416C>A , CM000664.1:g.86257416C>A GRCh37
NC_000002.10:g.86110927C>A NCBI36
NG_050742.2:g.80863G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263857.11:c.4682G>T MANE Select ENSP00000263857.6:p.Arg1561Leu
ENST00000263857.10:c.4682G>T ENSP00000263857.6:p.Arg1561Leu
ENST00000409681.1:c.4499G>T ENSP00000386300.1:p.Arg1500Leu
NM_015425.3:c.4682G>T NP_056240.2:p.Arg1561Leu
XM_006711983.2:c.4358G>T XP_006712046.1:p.Arg1453Leu
NM_015425.5:c.4682G>T NP_056240.2:p.Arg1561Leu
NM_015425.6:c.4682G>T MANE Select NP_056240.2:p.Arg1561Leu