Canonical Allele Identifier: CA470390655

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1540396
• ClinVar RCV Id: RCV002171981
• dbSNP Id: rs1847126887
• gnomAD v4: 10-77980208-G-A
• COSMIC: COSM1603771
• MyVariant Identifiers: chr10:g.79739966G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980208G>A , CM000672.2:g.77980208G>A	GRCh38
NC_000010.10:g.79739966G>A , CM000672.1:g.79739966G>A	GRCh37
NC_000010.9:g.79409972G>A	NCBI36
NG_029648.1:g.54333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1874C>T
ENST00000698725.1:n.1627C>T
ENST00000698726.1:n.3187C>T
ENST00000698727.1:n.2920C>T
ENST00000698728.1:n.3536C>T
ENST00000698729.1:n.4984C>T
ENST00000698730.1:n.5082C>T
ENST00000698731.1:c.3816C>T	ENSP00000513898.1:p.Ala1272=
ENST00000698732.1:c.*2646C>T	ENSP00000513899.1:n.*2646C>T
ENST00000698733.1:c.*3144C>T	ENSP00000513900.1:n.*3144C>T
ENST00000698734.1:c.*2130C>T	ENSP00000513901.1:n.*2130C>T
ENST00000698735.1:n.4308C>T
ENST00000698736.1:n.4721C>T
ENST00000698737.1:n.4072C>T
ENST00000372371.8:c.3957C>T MANE Select	ENSP00000361446.3:p.Ala1319=
ENST00000372371.7:c.3957C>T	ENSP00000361446.3:p.Ala1319=
ENST00000616246.4:c.405C>T	ENSP00000483738.1:p.Ala135=
NM_007055.3:c.3957C>T	NP_008986.2:p.Ala1319=
NM_007055.4:c.3957C>T MANE Select	NP_008986.2:p.Ala1319=