Canonical Allele Identifier: CA377340927
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009877G>T , CM000672.2:g.78009877G>T GRCh38
NC_000010.10:g.79769635G>T , CM000672.1:g.79769635G>T GRCh37
NC_000010.9:g.79439641G>T NCBI36
NG_029648.1:g.24664C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1336C>A
ENST00000698729.1:n.2882C>A
ENST00000698730.1:n.2882C>A
ENST00000698731.1:c.1616C>A ENSP00000513898.1:p.Pro539His
ENST00000698732.1:c.*618C>A ENSP00000513899.1:n.*618C>A
ENST00000698733.1:c.*944C>A ENSP00000513900.1:n.*944C>A
ENST00000698734.1:c.1757C>A ENSP00000513901.1:p.Pro586His
ENST00000698735.1:n.1872C>A
ENST00000698736.1:n.1872C>A
ENST00000698737.1:n.1872C>A
ENST00000698738.1:n.1872C>A
ENST00000698739.1:n.1872C>A
ENST00000372371.8:c.1757C>A MANE Select ENSP00000361446.3:p.Pro586His
ENST00000372371.7:c.1757C>A ENSP00000361446.3:p.Pro586His
ENST00000473588.2:c.559C>A
NM_007055.3:c.1757C>A NP_008986.2:p.Pro586His
NM_007055.4:c.1757C>A MANE Select NP_008986.2:p.Pro586His