Canonical Allele Identifier: CA377335549

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78000051-A-C
• MyVariant Identifiers: chr10:g.79759809A>C (hg19) ; chr10:g.78000051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000051A>C , CM000672.2:g.78000051A>C	GRCh38
NC_000010.10:g.79759809A>C , CM000672.1:g.79759809A>C	GRCh37
NC_000010.9:g.79429815A>C	NCBI36
NG_029648.1:g.34490T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1606T>G
ENST00000698728.1:n.2125T>G
ENST00000698729.1:n.3671T>G
ENST00000698730.1:n.3671T>G
ENST00000698731.1:c.2405T>G	ENSP00000513898.1:p.Phe802Cys
ENST00000698732.1:c.*1407T>G	ENSP00000513899.1:n.*1407T>G
ENST00000698733.1:c.*1733T>G	ENSP00000513900.1:n.*1733T>G
ENST00000698734.1:c.2546T>G	ENSP00000513901.1:p.Phe849Cys
ENST00000698735.1:n.2661T>G
ENST00000698736.1:n.2661T>G
ENST00000698737.1:n.2661T>G
ENST00000698738.1:n.2661T>G
ENST00000698739.1:n.2661T>G
ENST00000372371.8:c.2546T>G MANE Select	ENSP00000361446.3:p.Phe849Cys
ENST00000372371.7:c.2546T>G	ENSP00000361446.3:p.Phe849Cys
ENST00000472014.5:n.469+4665T>G
NM_007055.3:c.2546T>G	NP_008986.2:p.Phe849Cys
NM_007055.4:c.2546T>G MANE Select	NP_008986.2:p.Phe849Cys