Canonical Allele Identifier: CA594710608

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2705034
• ClinVar RCV Id: RCV003575231
• dbSNP Id: rs749999906
• gnomAD v2: 10-79764456-C-A
• gnomAD v4: 10-78004698-C-A
• MyVariant Identifiers: chr10:g.79764456C>A (hg19) ; chr10:g.78004698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004698C>A , CM000672.2:g.78004698C>A	GRCh38
NC_000010.10:g.79764456C>A , CM000672.1:g.79764456C>A	GRCh37
NC_000010.9:g.79434462C>A	NCBI36
NG_029648.1:g.29843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1307+18G>T
ENST00000698728.1:n.1826+18G>T
ENST00000698729.1:n.3372+18G>T
ENST00000698730.1:n.3372+18G>T
ENST00000698731.1:c.2106+18G>T	ENSP00000513898.1:n.2106+18G>T
ENST00000698732.1:c.*1108+18G>T	ENSP00000513899.1:n.*1108+18G>T
ENST00000698733.1:c.*1434+18G>T	ENSP00000513900.1:n.*1434+18G>T
ENST00000698734.1:c.2247+18G>T	ENSP00000513901.1:n.2247+18G>T
ENST00000698735.1:n.2362+18G>T
ENST00000698736.1:n.2362+18G>T
ENST00000698737.1:n.2362+18G>T
ENST00000698738.1:n.2362+18G>T
ENST00000698739.1:n.2362+18G>T
ENST00000372371.8:c.2247+18G>T MANE Select	ENSP00000361446.3:n.2247+18G>T
ENST00000372371.7:c.2247+18G>T	ENSP00000361446.3:n.2247+18G>T
ENST00000472014.5:n.469+18G>T
ENST00000473588.2:c.910+18G>T
NM_007055.3:c.2247+18G>T	NP_008986.2:n.2247+18G>T
NM_007055.4:c.2247+18G>T MANE Select	NP_008986.2:n.2247+18G>T