Canonical Allele Identifier: CA347552091
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040402C>G , CM000664.2:g.86040402C>G GRCh38
NC_000002.11:g.86267525C>G , CM000664.1:g.86267525C>G GRCh37
NC_000002.10:g.86121036C>G NCBI36
NG_050742.2:g.70754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3730G>C MANE Select ENSP00000263857.6:p.Gly1244Arg
ENST00000263857.10:c.3730G>C ENSP00000263857.6:p.Gly1244Arg
ENST00000409681.1:c.3730G>C ENSP00000386300.1:p.Gly1244Arg
ENST00000462078.1:n.118G>C
NM_015425.3:c.3730G>C NP_056240.2:p.Gly1244Arg
XM_006711983.2:c.3406G>C XP_006712046.1:p.Gly1136Arg
NM_015425.5:c.3730G>C NP_056240.2:p.Gly1244Arg
NM_015425.6:c.3730G>C MANE Select NP_056240.2:p.Gly1244Arg