Canonical Allele Identifier: CA5571094

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1406282
• ClinVar RCV Id: RCV001915753
• dbSNP Id: rs761832392
• ExAC: 10:79759804 T / C
• gnomAD v2: 10-79759804-T-C
• gnomAD v3: 10-78000046-T-C
• gnomAD v4: 10-78000046-T-C
• MyVariant Identifiers: chr10:g.79759804T>C (hg19) ; chr10:g.78000046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000046T>C , CM000672.2:g.78000046T>C	GRCh38
NC_000010.10:g.79759804T>C , CM000672.1:g.79759804T>C	GRCh37
NC_000010.9:g.79429810T>C	NCBI36
NG_029648.1:g.34495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1611A>G
ENST00000698728.1:n.2130A>G
ENST00000698729.1:n.3676A>G
ENST00000698730.1:n.3676A>G
ENST00000698731.1:c.2410A>G	ENSP00000513898.1:p.Thr804Ala
ENST00000698732.1:c.*1412A>G	ENSP00000513899.1:n.*1412A>G
ENST00000698733.1:c.*1738A>G	ENSP00000513900.1:n.*1738A>G
ENST00000698734.1:c.2551A>G	ENSP00000513901.1:p.Thr851Ala
ENST00000698735.1:n.2666A>G
ENST00000698736.1:n.2666A>G
ENST00000698737.1:n.2666A>G
ENST00000698738.1:n.2666A>G
ENST00000698739.1:n.2666A>G
ENST00000372371.8:c.2551A>G MANE Select	ENSP00000361446.3:p.Thr851Ala
ENST00000372371.7:c.2551A>G	ENSP00000361446.3:p.Thr851Ala
ENST00000472014.5:n.469+4670A>G
NM_007055.3:c.2551A>G	NP_008986.2:p.Thr851Ala
NM_007055.4:c.2551A>G MANE Select	NP_008986.2:p.Thr851Ala