Canonical Allele Identifier: CA344261
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 41249
ClinVar RCV Id: RCV000034149
dbSNP Id: rs267608675

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980159G>A , CM000672.2:g.77980159G>A GRCh38
NC_000010.10:g.79739917G>A , CM000672.1:g.79739917G>A GRCh37
NC_000010.9:g.79409923G>A NCBI36
NG_029648.1:g.54382C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698724.1:n.1923C>T
ENST00000698725.1:n.1676C>T
ENST00000698726.1:n.3236C>T
ENST00000698727.1:n.2969C>T
ENST00000698728.1:n.3585C>T
ENST00000698729.1:n.5033C>T
ENST00000698730.1:n.5131C>T
ENST00000698731.1:c.3865C>T ENSP00000513898.1:p.Gln1289Ter
ENST00000698732.1:c.*2695C>T ENSP00000513899.1:n.*2695C>T
ENST00000698733.1:c.*3193C>T ENSP00000513900.1:n.*3193C>T
ENST00000698734.1:c.*2179C>T ENSP00000513901.1:n.*2179C>T
ENST00000698735.1:n.4357C>T
ENST00000698736.1:n.4770C>T
ENST00000698737.1:n.4121C>T
ENST00000372371.8:c.4006C>T MANE Select ENSP00000361446.3:p.Gln1336Ter
ENST00000372371.7:c.4006C>T ENSP00000361446.3:p.Gln1336Ter
ENST00000616246.4:c.454C>T ENSP00000483738.1:p.Gln152Ter
NM_007055.3:c.4006C>T NP_008986.2:p.Gln1336Ter
NM_007055.4:c.4006C>T MANE Select NP_008986.2:p.Gln1336Ter