Canonical Allele Identifier: CA377335427

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847341287
• gnomAD v4: 10-77999994-G-A
• COSMIC: COSM1675384
• MyVariant Identifiers: chr10:g.79759752G>A (hg19) ; chr10:g.77999994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999994G>A , CM000672.2:g.77999994G>A	GRCh38
NC_000010.10:g.79759752G>A , CM000672.1:g.79759752G>A	GRCh37
NC_000010.9:g.79429758G>A	NCBI36
NG_029648.1:g.34547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1663C>T
ENST00000698728.1:n.2182C>T
ENST00000698729.1:n.3728C>T
ENST00000698730.1:n.3728C>T
ENST00000698731.1:c.2462C>T	ENSP00000513898.1:p.Thr821Met
ENST00000698732.1:c.*1464C>T	ENSP00000513899.1:n.*1464C>T
ENST00000698733.1:c.*1790C>T	ENSP00000513900.1:n.*1790C>T
ENST00000698734.1:c.2603C>T	ENSP00000513901.1:p.Thr868Met
ENST00000698735.1:n.2718C>T
ENST00000698736.1:n.2718C>T
ENST00000698737.1:n.2718C>T
ENST00000698738.1:n.2718C>T
ENST00000698739.1:n.2718C>T
ENST00000372371.8:c.2603C>T MANE Select	ENSP00000361446.3:p.Thr868Met
ENST00000372371.7:c.2603C>T	ENSP00000361446.3:p.Thr868Met
ENST00000472014.5:n.469+4722C>T
NM_007055.3:c.2603C>T	NP_008986.2:p.Thr868Met
NM_007055.4:c.2603C>T MANE Select	NP_008986.2:p.Thr868Met