Canonical Allele Identifier: CA347545476
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030308G>T , CM000664.2:g.86030308G>T GRCh38
NC_000002.11:g.86257431G>T , CM000664.1:g.86257431G>T GRCh37
NC_000002.10:g.86110942G>T NCBI36
NG_050742.2:g.80848C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4667C>A MANE Select ENSP00000263857.6:p.Thr1556Asn
ENST00000263857.10:c.4667C>A ENSP00000263857.6:p.Thr1556Asn
ENST00000409681.1:c.4484C>A ENSP00000386300.1:p.Thr1495Asn
NM_015425.3:c.4667C>A NP_056240.2:p.Thr1556Asn
XM_006711983.2:c.4343C>A XP_006712046.1:p.Thr1448Asn
NM_015425.5:c.4667C>A NP_056240.2:p.Thr1556Asn
NM_015425.6:c.4667C>A MANE Select NP_056240.2:p.Thr1556Asn