Canonical Allele Identifier: CA347552455
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040468G>T , CM000664.2:g.86040468G>T GRCh38
NC_000002.11:g.86267591G>T , CM000664.1:g.86267591G>T GRCh37
NC_000002.10:g.86121102G>T NCBI36
NG_050742.2:g.70688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3664C>A MANE Select ENSP00000263857.6:p.Pro1222Thr
ENST00000263857.10:c.3664C>A ENSP00000263857.6:p.Pro1222Thr
ENST00000409681.1:c.3664C>A ENSP00000386300.1:p.Pro1222Thr
ENST00000462078.1:n.52C>A
NM_015425.3:c.3664C>A NP_056240.2:p.Pro1222Thr
XM_006711983.2:c.3340C>A XP_006712046.1:p.Pro1114Thr
NM_015425.5:c.3664C>A NP_056240.2:p.Pro1222Thr
NM_015425.6:c.3664C>A MANE Select NP_056240.2:p.Pro1222Thr