Canonical Allele Identifier: CA377340895
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009862A>C , CM000672.2:g.78009862A>C GRCh38
NC_000010.10:g.79769620A>C , CM000672.1:g.79769620A>C GRCh37
NC_000010.9:g.79439626A>C NCBI36
NG_029648.1:g.24679T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698728.1:n.1349+2T>G
ENST00000698729.1:n.2895+2T>G
ENST00000698730.1:n.2895+2T>G
ENST00000698731.1:c.1629+2T>G ENSP00000513898.1:n.1629+2T>G
ENST00000698732.1:c.*631+2T>G ENSP00000513899.1:n.*631+2T>G
ENST00000698733.1:c.*957+2T>G ENSP00000513900.1:n.*957+2T>G
ENST00000698734.1:c.1770+2T>G ENSP00000513901.1:n.1770+2T>G
ENST00000698735.1:n.1885+2T>G
ENST00000698736.1:n.1885+2T>G
ENST00000698737.1:n.1885+2T>G
ENST00000698738.1:n.1885+2T>G
ENST00000698739.1:n.1885+2T>G
ENST00000372371.8:c.1770+2T>G MANE Select ENSP00000361446.3:n.1770+2T>G
ENST00000372371.7:c.1770+2T>G ENSP00000361446.3:n.1770+2T>G
ENST00000473588.2:c.572+2T>G
NM_007055.3:c.1770+2T>G NP_008986.2:n.1770+2T>G
NM_007055.4:c.1770+2T>G MANE Select NP_008986.2:n.1770+2T>G