Canonical Allele Identifier: CA594432619

Gene: POLR3A

Linked Data

• dbSNP Id: rs1200124878
• gnomAD v2: 10-79759734-G-C
• gnomAD v4: 10-77999976-G-C
• MyVariant Identifiers: chr10:g.79759734G>C (hg19) ; chr10:g.77999976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999976G>C , CM000672.2:g.77999976G>C	GRCh38
NC_000010.10:g.79759734G>C , CM000672.1:g.79759734G>C	GRCh37
NC_000010.9:g.79429740G>C	NCBI36
NG_029648.1:g.34565C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+5C>G
ENST00000698728.1:n.2195+5C>G
ENST00000698729.1:n.3741+5C>G
ENST00000698730.1:n.3741+5C>G
ENST00000698731.1:c.2475+5C>G	ENSP00000513898.1:n.2475+5C>G
ENST00000698732.1:c.*1477+5C>G	ENSP00000513899.1:n.*1477+5C>G
ENST00000698733.1:c.*1803+5C>G	ENSP00000513900.1:n.*1803+5C>G
ENST00000698734.1:c.2616+5C>G	ENSP00000513901.1:n.2616+5C>G
ENST00000698735.1:n.2731+5C>G
ENST00000698736.1:n.2731+5C>G
ENST00000698737.1:n.2731+5C>G
ENST00000698738.1:n.2731+5C>G
ENST00000698739.1:n.2731+5C>G
ENST00000372371.8:c.2616+5C>G MANE Select	ENSP00000361446.3:n.2616+5C>G
ENST00000372371.7:c.2616+5C>G	ENSP00000361446.3:n.2616+5C>G
ENST00000472014.5:n.469+4740C>G
NM_007055.3:c.2616+5C>G	NP_008986.2:n.2616+5C>G
NM_007055.4:c.2616+5C>G MANE Select	NP_008986.2:n.2616+5C>G