Canonical Allele Identifier: CA377335575
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000056A>C , CM000672.2:g.78000056A>C GRCh38
NC_000010.10:g.79759814A>C , CM000672.1:g.79759814A>C GRCh37
NC_000010.9:g.79429820A>C NCBI36
NG_029648.1:g.34485T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698727.1:n.1601T>G
ENST00000698728.1:n.2120T>G
ENST00000698729.1:n.3666T>G
ENST00000698730.1:n.3666T>G
ENST00000698731.1:c.2400T>G ENSP00000513898.1:p.Phe800Leu
ENST00000698732.1:c.*1402T>G ENSP00000513899.1:n.*1402T>G
ENST00000698733.1:c.*1728T>G ENSP00000513900.1:n.*1728T>G
ENST00000698734.1:c.2541T>G ENSP00000513901.1:p.Phe847Leu
ENST00000698735.1:n.2656T>G
ENST00000698736.1:n.2656T>G
ENST00000698737.1:n.2656T>G
ENST00000698738.1:n.2656T>G
ENST00000698739.1:n.2656T>G
ENST00000372371.8:c.2541T>G MANE Select ENSP00000361446.3:p.Phe847Leu
ENST00000372371.7:c.2541T>G ENSP00000361446.3:p.Phe847Leu
ENST00000472014.5:n.469+4660T>G
NM_007055.3:c.2541T>G NP_008986.2:p.Phe847Leu
NM_007055.4:c.2541T>G MANE Select NP_008986.2:p.Phe847Leu