Canonical Allele Identifier: CA210207002
Gene: POLR3A HGNC NCBI

Linked Data

dbSNP Id: rs865846615

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004807G>A , CM000672.2:g.78004807G>A GRCh38
NC_000010.10:g.79764565G>A , CM000672.1:g.79764565G>A GRCh37
NC_000010.9:g.79434571G>A NCBI36
NG_029648.1:g.29734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1216C>T
ENST00000698728.1:n.1735C>T
ENST00000698729.1:n.3281C>T
ENST00000698730.1:n.3281C>T
ENST00000698731.1:c.2015C>T ENSP00000513898.1:p.Ala672Val
ENST00000698732.1:c.*1017C>T ENSP00000513899.1:n.*1017C>T
ENST00000698733.1:c.*1343C>T ENSP00000513900.1:n.*1343C>T
ENST00000698734.1:c.2156C>T ENSP00000513901.1:p.Ala719Val
ENST00000698735.1:n.2271C>T
ENST00000698736.1:n.2271C>T
ENST00000698737.1:n.2271C>T
ENST00000698738.1:n.2271C>T
ENST00000698739.1:n.2271C>T
ENST00000372371.8:c.2156C>T MANE Select ENSP00000361446.3:p.Ala719Val
ENST00000372371.7:c.2156C>T ENSP00000361446.3:p.Ala719Val
ENST00000472014.5:n.378C>T
ENST00000473588.2:c.819C>T
NM_007055.3:c.2156C>T NP_008986.2:p.Ala719Val
NM_007055.4:c.2156C>T MANE Select NP_008986.2:p.Ala719Val