Canonical Allele Identifier: CA470397168

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1565352
• ClinVar RCV Id: RCV002218279
• dbSNP Id: rs2131942138
• gnomAD v4: 10-78000047-G-A
• MyVariant Identifiers: chr10:g.79759805G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000047G>A , CM000672.2:g.78000047G>A	GRCh38
NC_000010.10:g.79759805G>A , CM000672.1:g.79759805G>A	GRCh37
NC_000010.9:g.79429811G>A	NCBI36
NG_029648.1:g.34494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1610C>T
ENST00000698728.1:n.2129C>T
ENST00000698729.1:n.3675C>T
ENST00000698730.1:n.3675C>T
ENST00000698731.1:c.2409C>T	ENSP00000513898.1:p.His803=
ENST00000698732.1:c.*1411C>T	ENSP00000513899.1:n.*1411C>T
ENST00000698733.1:c.*1737C>T	ENSP00000513900.1:n.*1737C>T
ENST00000698734.1:c.2550C>T	ENSP00000513901.1:p.His850=
ENST00000698735.1:n.2665C>T
ENST00000698736.1:n.2665C>T
ENST00000698737.1:n.2665C>T
ENST00000698738.1:n.2665C>T
ENST00000698739.1:n.2665C>T
ENST00000372371.8:c.2550C>T MANE Select	ENSP00000361446.3:p.His850=
ENST00000372371.7:c.2550C>T	ENSP00000361446.3:p.His850=
ENST00000472014.5:n.469+4669C>T
NM_007055.3:c.2550C>T	NP_008986.2:p.His850=
NM_007055.4:c.2550C>T MANE Select	NP_008986.2:p.His850=