Canonical Allele Identifier: CA377335489

Gene: POLR3A

Linked Data

• MyVariant Identifiers: chr10:g.79759780C>A (hg19) ; chr10:g.78000022C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000022C>A , CM000672.2:g.78000022C>A	GRCh38
NC_000010.10:g.79759780C>A , CM000672.1:g.79759780C>A	GRCh37
NC_000010.9:g.79429786C>A	NCBI36
NG_029648.1:g.34519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1635G>T
ENST00000698728.1:n.2154G>T
ENST00000698729.1:n.3700G>T
ENST00000698730.1:n.3700G>T
ENST00000698731.1:c.2434G>T	ENSP00000513898.1:p.Val812Phe
ENST00000698732.1:c.*1436G>T	ENSP00000513899.1:n.*1436G>T
ENST00000698733.1:c.*1762G>T	ENSP00000513900.1:n.*1762G>T
ENST00000698734.1:c.2575G>T	ENSP00000513901.1:p.Val859Phe
ENST00000698735.1:n.2690G>T
ENST00000698736.1:n.2690G>T
ENST00000698737.1:n.2690G>T
ENST00000698738.1:n.2690G>T
ENST00000698739.1:n.2690G>T
ENST00000372371.8:c.2575G>T MANE Select	ENSP00000361446.3:p.Val859Phe
ENST00000372371.7:c.2575G>T	ENSP00000361446.3:p.Val859Phe
ENST00000472014.5:n.469+4694G>T
NM_007055.3:c.2575G>T	NP_008986.2:p.Val859Phe
NM_007055.4:c.2575G>T MANE Select	NP_008986.2:p.Val859Phe