Canonical Allele Identifier: CA5571040

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2015980
• ClinVar RCV Id: RCV002843669
• dbSNP Id: rs749164592
• ExAC: 10:79752989 G / A
• gnomAD v2: 10-79752989-G-A
• gnomAD v3: 10-77993231-G-A
• gnomAD v4: 10-77993231-G-A
• MyVariant Identifiers: chr10:g.79752989G>A (hg19) ; chr10:g.77993231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993231G>A , CM000672.2:g.77993231G>A	GRCh38
NC_000010.10:g.79752989G>A , CM000672.1:g.79752989G>A	GRCh37
NC_000010.9:g.79422995G>A	NCBI36
NG_029648.1:g.41310C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.21C>T
ENST00000698727.1:n.1813C>T
ENST00000698728.1:n.2332C>T
ENST00000698729.1:n.3878C>T
ENST00000698730.1:n.3878C>T
ENST00000698731.1:c.2612C>T	ENSP00000513898.1:p.Pro871Leu
ENST00000698732.1:c.*1614C>T	ENSP00000513899.1:n.*1614C>T
ENST00000698733.1:c.*1940C>T	ENSP00000513900.1:n.*1940C>T
ENST00000698734.1:c.*277C>T	ENSP00000513901.1:n.*277C>T
ENST00000698735.1:n.2868C>T
ENST00000698736.1:n.2868C>T
ENST00000698737.1:n.2868C>T
ENST00000698738.1:n.2868C>T
ENST00000698739.1:n.2868C>T
ENST00000372371.8:c.2753C>T MANE Select	ENSP00000361446.3:p.Pro918Leu
ENST00000372371.7:c.2753C>T	ENSP00000361446.3:p.Pro918Leu
ENST00000472014.5:n.606C>T
NM_007055.3:c.2753C>T	NP_008986.2:p.Pro918Leu
NM_007055.4:c.2753C>T MANE Select	NP_008986.2:p.Pro918Leu