Canonical Allele Identifier: CA5571252

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78007731C>T , CM000672.2:g.78007731C>T	GRCh38
NC_000010.10:g.79767489C>T , CM000672.1:g.79767489C>T	GRCh37
NC_000010.9:g.79437495C>T	NCBI36
NG_029648.1:g.26810G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.2045G>A MANE Select	NP_008986.2:p.Arg682Gln
ENST00000372371.8:c.2045G>A MANE Select	ENSP00000361446.3:p.Arg682Gln
NM_007055.3:c.2045G>A	NP_008986.2:p.Arg682Gln
ENST00000372371.7:c.2045G>A	ENSP00000361446.3:p.Arg682Gln
ENST00000472014.5:n.267G>A
ENST00000473588.2:c.708G>A
ENST00000698727.1:n.1105G>A
ENST00000698728.1:n.1624G>A
ENST00000698729.1:n.3170G>A
ENST00000698730.1:n.3170G>A
ENST00000698731.1:c.1904G>A	ENSP00000513898.1:p.Arg635Gln
ENST00000698732.1:c.*906G>A	ENSP00000513899.1:n.*906G>A
ENST00000698733.1:c.*1232G>A	ENSP00000513900.1:n.*1232G>A
ENST00000698734.1:c.2045G>A	ENSP00000513901.1:p.Arg682Gln
ENST00000698735.1:n.2160G>A
ENST00000698736.1:n.2160G>A
ENST00000698737.1:n.2160G>A
ENST00000698738.1:n.2160G>A
ENST00000698739.1:n.2160G>A