Canonical Allele Identifier: CA377337984
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004750T>A , CM000672.2:g.78004750T>A GRCh38
NC_000010.10:g.79764508T>A , CM000672.1:g.79764508T>A GRCh37
NC_000010.9:g.79434514T>A NCBI36
NG_029648.1:g.29791A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1273A>T
ENST00000698728.1:n.1792A>T
ENST00000698729.1:n.3338A>T
ENST00000698730.1:n.3338A>T
ENST00000698731.1:c.2072A>T ENSP00000513898.1:p.Gln691Leu
ENST00000698732.1:c.*1074A>T ENSP00000513899.1:n.*1074A>T
ENST00000698733.1:c.*1400A>T ENSP00000513900.1:n.*1400A>T
ENST00000698734.1:c.2213A>T ENSP00000513901.1:p.Gln738Leu
ENST00000698735.1:n.2328A>T
ENST00000698736.1:n.2328A>T
ENST00000698737.1:n.2328A>T
ENST00000698738.1:n.2328A>T
ENST00000698739.1:n.2328A>T
ENST00000372371.8:c.2213A>T MANE Select ENSP00000361446.3:p.Gln738Leu
ENST00000372371.7:c.2213A>T ENSP00000361446.3:p.Gln738Leu
ENST00000472014.5:n.435A>T
ENST00000473588.2:c.876A>T
NM_007055.3:c.2213A>T NP_008986.2:p.Gln738Leu
NM_007055.4:c.2213A>T MANE Select NP_008986.2:p.Gln738Leu