Canonical Allele Identifier: CA377325928

Gene: POLR3A

Linked Data

• dbSNP Id: rs1297452115
• gnomAD v2: 10-79739901-C-T
• gnomAD v4: 10-77980143-C-T
• MyVariant Identifiers: chr10:g.79739901C>T (hg19) ; chr10:g.77980143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980143C>T , CM000672.2:g.77980143C>T	GRCh38
NC_000010.10:g.79739901C>T , CM000672.1:g.79739901C>T	GRCh37
NC_000010.9:g.79409907C>T	NCBI36
NG_029648.1:g.54398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1939G>A
ENST00000698725.1:n.1692G>A
ENST00000698726.1:n.3252G>A
ENST00000698727.1:n.2985G>A
ENST00000698728.1:n.3601G>A
ENST00000698729.1:n.5049G>A
ENST00000698730.1:n.5147G>A
ENST00000698731.1:c.3881G>A	ENSP00000513898.1:p.Cys1294Tyr
ENST00000698732.1:c.*2711G>A	ENSP00000513899.1:n.*2711G>A
ENST00000698733.1:c.*3209G>A	ENSP00000513900.1:n.*3209G>A
ENST00000698734.1:c.*2195G>A	ENSP00000513901.1:n.*2195G>A
ENST00000698735.1:n.4373G>A
ENST00000698736.1:n.4786G>A
ENST00000698737.1:n.4137G>A
ENST00000372371.8:c.4022G>A MANE Select	ENSP00000361446.3:p.Cys1341Tyr
ENST00000372371.7:c.4022G>A	ENSP00000361446.3:p.Cys1341Tyr
ENST00000616246.4:c.470G>A	ENSP00000483738.1:p.Cys157Tyr
NM_007055.3:c.4022G>A	NP_008986.2:p.Cys1341Tyr
NM_007055.4:c.4022G>A MANE Select	NP_008986.2:p.Cys1341Tyr