Canonical Allele Identifier: CA5570846

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77983957T>C , CM000672.2:g.77983957T>C	GRCh38
NC_000010.10:g.79743715T>C , CM000672.1:g.79743715T>C	GRCh37
NC_000010.9:g.79413721T>C	NCBI36
NG_029648.1:g.50584A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.3392A>G MANE Select	NP_008986.2:p.Lys1131Arg
ENST00000372371.8:c.3392A>G MANE Select	ENSP00000361446.3:p.Lys1131Arg
NM_007055.3:c.3392A>G	NP_008986.2:p.Lys1131Arg
ENST00000372371.7:c.3392A>G	ENSP00000361446.3:p.Lys1131Arg
ENST00000616246.4:c.-161A>G	ENSP00000483738.1:n.-161A>G
ENST00000698724.1:n.1309A>G
ENST00000698726.1:n.2622A>G
ENST00000698727.1:n.2392+248A>G
ENST00000698728.1:n.2971A>G
ENST00000698729.1:n.4419A>G
ENST00000698730.1:n.4517A>G
ENST00000698731.1:c.3251A>G	ENSP00000513898.1:p.Lys1084Arg
ENST00000698732.1:c.*2155A>G	ENSP00000513899.1:n.*2155A>G
ENST00000698733.1:c.*2579A>G	ENSP00000513900.1:n.*2579A>G
ENST00000698734.1:c.*1565A>G	ENSP00000513901.1:n.*1565A>G
ENST00000698735.1:n.3409A>G
ENST00000698736.1:n.4156A>G
ENST00000698737.1:n.3507A>G