Canonical Allele Identifier: CA377335610
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000066G>A , CM000672.2:g.78000066G>A GRCh38
NC_000010.10:g.79759824G>A , CM000672.1:g.79759824G>A GRCh37
NC_000010.9:g.79429830G>A NCBI36
NG_029648.1:g.34475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1591C>T
ENST00000698728.1:n.2110C>T
ENST00000698729.1:n.3656C>T
ENST00000698730.1:n.3656C>T
ENST00000698731.1:c.2390C>T ENSP00000513898.1:p.Pro797Leu
ENST00000698732.1:c.*1392C>T ENSP00000513899.1:n.*1392C>T
ENST00000698733.1:c.*1718C>T ENSP00000513900.1:n.*1718C>T
ENST00000698734.1:c.2531C>T ENSP00000513901.1:p.Pro844Leu
ENST00000698735.1:n.2646C>T
ENST00000698736.1:n.2646C>T
ENST00000698737.1:n.2646C>T
ENST00000698738.1:n.2646C>T
ENST00000698739.1:n.2646C>T
ENST00000372371.8:c.2531C>T MANE Select ENSP00000361446.3:p.Pro844Leu
ENST00000372371.7:c.2531C>T ENSP00000361446.3:p.Pro844Leu
ENST00000472014.5:n.469+4650C>T
NM_007055.3:c.2531C>T NP_008986.2:p.Pro844Leu
NM_007055.4:c.2531C>T MANE Select NP_008986.2:p.Pro844Leu