Canonical Allele Identifier: CA377341077
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009950C>A , CM000672.2:g.78009950C>A GRCh38
NC_000010.10:g.79769708C>A , CM000672.1:g.79769708C>A GRCh37
NC_000010.9:g.79439714C>A NCBI36
NG_029648.1:g.24591G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1263G>T
ENST00000698729.1:n.2809G>T
ENST00000698730.1:n.2809G>T
ENST00000698731.1:c.1543G>T ENSP00000513898.1:p.Ala515Ser
ENST00000698732.1:c.*545G>T ENSP00000513899.1:n.*545G>T
ENST00000698733.1:c.*871G>T ENSP00000513900.1:n.*871G>T
ENST00000698734.1:c.1684G>T ENSP00000513901.1:p.Ala562Ser
ENST00000698735.1:n.1799G>T
ENST00000698736.1:n.1799G>T
ENST00000698737.1:n.1799G>T
ENST00000698738.1:n.1799G>T
ENST00000698739.1:n.1799G>T
ENST00000372371.8:c.1684G>T MANE Select ENSP00000361446.3:p.Ala562Ser
ENST00000372371.7:c.1684G>T ENSP00000361446.3:p.Ala562Ser
ENST00000473588.2:c.486G>T
NM_007055.3:c.1684G>T NP_008986.2:p.Ala562Ser
NM_007055.4:c.1684G>T MANE Select NP_008986.2:p.Ala562Ser