Canonical Allele Identifier: CA377341184

Gene: POLR3A

Linked Data

• MyVariant Identifiers: chr10:g.79769738G>C (hg19) ; chr10:g.78009980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009980G>C , CM000672.2:g.78009980G>C	GRCh38
NC_000010.10:g.79769738G>C , CM000672.1:g.79769738G>C	GRCh37
NC_000010.9:g.79439744G>C	NCBI36
NG_029648.1:g.24561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1233C>G
ENST00000698729.1:n.2779C>G
ENST00000698730.1:n.2779C>G
ENST00000698731.1:c.1513C>G	ENSP00000513898.1:p.Leu505Val
ENST00000698732.1:c.*515C>G	ENSP00000513899.1:n.*515C>G
ENST00000698733.1:c.*841C>G	ENSP00000513900.1:n.*841C>G
ENST00000698734.1:c.1654C>G	ENSP00000513901.1:p.Leu552Val
ENST00000698735.1:n.1769C>G
ENST00000698736.1:n.1769C>G
ENST00000698737.1:n.1769C>G
ENST00000698738.1:n.1769C>G
ENST00000698739.1:n.1769C>G
ENST00000372371.8:c.1654C>G MANE Select	ENSP00000361446.3:p.Leu552Val
ENST00000372371.7:c.1654C>G	ENSP00000361446.3:p.Leu552Val
ENST00000473588.2:c.456C>G
NM_007055.3:c.1654C>G	NP_008986.2:p.Leu552Val
NM_007055.4:c.1654C>G MANE Select	NP_008986.2:p.Leu552Val