Canonical Allele Identifier: CA5571355

Gene: POLR3A

Linked Data

• dbSNP Id: rs56214655
• ExAC: 10:79769668 T / C
• gnomAD v2: 10-79769668-T-C
• gnomAD v4: 10-78009910-T-C
• MyVariant Identifiers: chr10:g.79769668T>C (hg19) ; chr10:g.78009910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009910T>C , CM000672.2:g.78009910T>C	GRCh38
NC_000010.10:g.79769668T>C , CM000672.1:g.79769668T>C	GRCh37
NC_000010.9:g.79439674T>C	NCBI36
NG_029648.1:g.24631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1303A>G
ENST00000698729.1:n.2849A>G
ENST00000698730.1:n.2849A>G
ENST00000698731.1:c.1583A>G	ENSP00000513898.1:p.Lys528Arg
ENST00000698732.1:c.*585A>G	ENSP00000513899.1:n.*585A>G
ENST00000698733.1:c.*911A>G	ENSP00000513900.1:n.*911A>G
ENST00000698734.1:c.1724A>G	ENSP00000513901.1:p.Lys575Arg
ENST00000698735.1:n.1839A>G
ENST00000698736.1:n.1839A>G
ENST00000698737.1:n.1839A>G
ENST00000698738.1:n.1839A>G
ENST00000698739.1:n.1839A>G
ENST00000372371.8:c.1724A>G MANE Select	ENSP00000361446.3:p.Lys575Arg
ENST00000372371.7:c.1724A>G	ENSP00000361446.3:p.Lys575Arg
ENST00000473588.2:c.526A>G
NM_007055.3:c.1724A>G	NP_008986.2:p.Lys575Arg
NM_007055.4:c.1724A>G MANE Select	NP_008986.2:p.Lys575Arg