Canonical Allele Identifier: CA377338423

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004826-T-C
• MyVariant Identifiers: chr10:g.79764584T>C (hg19) ; chr10:g.78004826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004826T>C , CM000672.2:g.78004826T>C	GRCh38
NC_000010.10:g.79764584T>C , CM000672.1:g.79764584T>C	GRCh37
NC_000010.9:g.79434590T>C	NCBI36
NG_029648.1:g.29715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1197A>G
ENST00000698728.1:n.1716A>G
ENST00000698729.1:n.3262A>G
ENST00000698730.1:n.3262A>G
ENST00000698731.1:c.1996A>G	ENSP00000513898.1:p.Lys666Glu
ENST00000698732.1:c.*998A>G	ENSP00000513899.1:n.*998A>G
ENST00000698733.1:c.*1324A>G	ENSP00000513900.1:n.*1324A>G
ENST00000698734.1:c.2137A>G	ENSP00000513901.1:p.Lys713Glu
ENST00000698735.1:n.2252A>G
ENST00000698736.1:n.2252A>G
ENST00000698737.1:n.2252A>G
ENST00000698738.1:n.2252A>G
ENST00000698739.1:n.2252A>G
ENST00000372371.8:c.2137A>G MANE Select	ENSP00000361446.3:p.Lys713Glu
ENST00000372371.7:c.2137A>G	ENSP00000361446.3:p.Lys713Glu
ENST00000472014.5:n.359A>G
ENST00000473588.2:c.800A>G
NM_007055.3:c.2137A>G	NP_008986.2:p.Lys713Glu
NM_007055.4:c.2137A>G MANE Select	NP_008986.2:p.Lys713Glu