Canonical Allele Identifier: CA5571379
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 301071
ClinVar RCV Id: RCV000310422
dbSNP Id: rs763849177

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78010462C>G , CM000672.2:g.78010462C>G GRCh38
NC_000010.10:g.79770220C>G , CM000672.1:g.79770220C>G GRCh37
NC_000010.9:g.79440226C>G NCBI36
NG_029648.1:g.24079G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698728.1:n.1221+9G>C
ENST00000698729.1:n.2767+9G>C
ENST00000698730.1:n.2767+9G>C
ENST00000698731.1:c.1501+9G>C ENSP00000513898.1:n.1501+9G>C
ENST00000698732.1:c.*503+9G>C ENSP00000513899.1:n.*503+9G>C
ENST00000698733.1:c.*829+9G>C ENSP00000513900.1:n.*829+9G>C
ENST00000698734.1:c.1642+9G>C ENSP00000513901.1:n.1642+9G>C
ENST00000698735.1:n.1757+9G>C
ENST00000698736.1:n.1757+9G>C
ENST00000698737.1:n.1757+9G>C
ENST00000698738.1:n.1757+9G>C
ENST00000698739.1:n.1757+9G>C
ENST00000372371.8:c.1642+9G>C MANE Select ENSP00000361446.3:n.1642+9G>C
ENST00000372371.7:c.1642+9G>C ENSP00000361446.3:n.1642+9G>C
ENST00000473588.2:c.444+9G>C
NM_007055.3:c.1642+9G>C NP_008986.2:n.1642+9G>C
NM_007055.4:c.1642+9G>C MANE Select NP_008986.2:n.1642+9G>C