Canonical Allele Identifier: CA377341101

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009960-G-T
• COSMIC: COSM1221510
• MyVariant Identifiers: chr10:g.79769718G>T (hg19) ; chr10:g.78009960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009960G>T , CM000672.2:g.78009960G>T	GRCh38
NC_000010.10:g.79769718G>T , CM000672.1:g.79769718G>T	GRCh37
NC_000010.9:g.79439724G>T	NCBI36
NG_029648.1:g.24581C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1253C>A
ENST00000698729.1:n.2799C>A
ENST00000698730.1:n.2799C>A
ENST00000698731.1:c.1533C>A	ENSP00000513898.1:p.Phe511Leu
ENST00000698732.1:c.*535C>A	ENSP00000513899.1:n.*535C>A
ENST00000698733.1:c.*861C>A	ENSP00000513900.1:n.*861C>A
ENST00000698734.1:c.1674C>A	ENSP00000513901.1:p.Phe558Leu
ENST00000698735.1:n.1789C>A
ENST00000698736.1:n.1789C>A
ENST00000698737.1:n.1789C>A
ENST00000698738.1:n.1789C>A
ENST00000698739.1:n.1789C>A
ENST00000372371.8:c.1674C>A MANE Select	ENSP00000361446.3:p.Phe558Leu
ENST00000372371.7:c.1674C>A	ENSP00000361446.3:p.Phe558Leu
ENST00000473588.2:c.476C>A
NM_007055.3:c.1674C>A	NP_008986.2:p.Phe558Leu
NM_007055.4:c.1674C>A MANE Select	NP_008986.2:p.Phe558Leu