Canonical Allele Identifier: CA377334428

Gene: POLR3A

Linked Data

• dbSNP Id: rs1265215453
• gnomAD v2: 10-79753064-G-C
• MyVariant Identifiers: chr10:g.79753064G>C (hg19) ; chr10:g.77993306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993306G>C , CM000672.2:g.77993306G>C	GRCh38
NC_000010.10:g.79753064G>C , CM000672.1:g.79753064G>C	GRCh37
NC_000010.9:g.79423070G>C	NCBI36
NG_029648.1:g.41235C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1738C>G
ENST00000698728.1:n.2257C>G
ENST00000698729.1:n.3803C>G
ENST00000698730.1:n.3803C>G
ENST00000698731.1:c.2537C>G	ENSP00000513898.1:p.Ser846Cys
ENST00000698732.1:c.*1539C>G	ENSP00000513899.1:n.*1539C>G
ENST00000698733.1:c.*1865C>G	ENSP00000513900.1:n.*1865C>G
ENST00000698734.1:c.*202C>G	ENSP00000513901.1:n.*202C>G
ENST00000698735.1:n.2793C>G
ENST00000698736.1:n.2793C>G
ENST00000698737.1:n.2793C>G
ENST00000698738.1:n.2793C>G
ENST00000698739.1:n.2793C>G
ENST00000372371.8:c.2678C>G MANE Select	ENSP00000361446.3:p.Ser893Cys
ENST00000372371.7:c.2678C>G	ENSP00000361446.3:p.Ser893Cys
ENST00000472014.5:n.531C>G
NM_007055.3:c.2678C>G	NP_008986.2:p.Ser893Cys
NM_007055.4:c.2678C>G MANE Select	NP_008986.2:p.Ser893Cys