Canonical Allele Identifier: CA347545251
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030204A>G , CM000664.2:g.86030204A>G GRCh38
NC_000002.11:g.86257327A>G , CM000664.1:g.86257327A>G GRCh37
NC_000002.10:g.86110838A>G NCBI36
NG_050742.2:g.80952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4771T>C MANE Select ENSP00000263857.6:p.Tyr1591His
ENST00000263857.10:c.4771T>C ENSP00000263857.6:p.Tyr1591His
ENST00000409681.1:c.4588T>C ENSP00000386300.1:p.Tyr1530His
NM_015425.3:c.4771T>C NP_056240.2:p.Tyr1591His
XM_006711983.2:c.4447T>C XP_006712046.1:p.Tyr1483His
NM_015425.5:c.4771T>C NP_056240.2:p.Tyr1591His
NM_015425.6:c.4771T>C MANE Select NP_056240.2:p.Tyr1591His