Canonical Allele Identifier: CA377335546

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1184044
• ClinVar RCV Id: RCV001542000 ; RCV001557204
• dbSNP Id: rs1847342207
• MyVariant Identifiers: chr10:g.79759808G>C (hg19) ; chr10:g.78000050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000050G>C , CM000672.2:g.78000050G>C	GRCh38
NC_000010.10:g.79759808G>C , CM000672.1:g.79759808G>C	GRCh37
NC_000010.9:g.79429814G>C	NCBI36
NG_029648.1:g.34491C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1607C>G
ENST00000698728.1:n.2126C>G
ENST00000698729.1:n.3672C>G
ENST00000698730.1:n.3672C>G
ENST00000698731.1:c.2406C>G	ENSP00000513898.1:p.Phe802Leu
ENST00000698732.1:c.*1408C>G	ENSP00000513899.1:n.*1408C>G
ENST00000698733.1:c.*1734C>G	ENSP00000513900.1:n.*1734C>G
ENST00000698734.1:c.2547C>G	ENSP00000513901.1:p.Phe849Leu
ENST00000698735.1:n.2662C>G
ENST00000698736.1:n.2662C>G
ENST00000698737.1:n.2662C>G
ENST00000698738.1:n.2662C>G
ENST00000698739.1:n.2662C>G
ENST00000372371.8:c.2547C>G MANE Select	ENSP00000361446.3:p.Phe849Leu
ENST00000372371.7:c.2547C>G	ENSP00000361446.3:p.Phe849Leu
ENST00000472014.5:n.469+4666C>G
NM_007055.3:c.2547C>G	NP_008986.2:p.Phe849Leu
NM_007055.4:c.2547C>G MANE Select	NP_008986.2:p.Phe849Leu