Canonical Allele Identifier: CA470397661

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004824-C-T
• MyVariant Identifiers: chr10:g.79764582C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004824C>T , CM000672.2:g.78004824C>T	GRCh38
NC_000010.10:g.79764582C>T , CM000672.1:g.79764582C>T	GRCh37
NC_000010.9:g.79434588C>T	NCBI36
NG_029648.1:g.29717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1199G>A
ENST00000698728.1:n.1718G>A
ENST00000698729.1:n.3264G>A
ENST00000698730.1:n.3264G>A
ENST00000698731.1:c.1998G>A	ENSP00000513898.1:p.Lys666=
ENST00000698732.1:c.*1000G>A	ENSP00000513899.1:n.*1000G>A
ENST00000698733.1:c.*1326G>A	ENSP00000513900.1:n.*1326G>A
ENST00000698734.1:c.2139G>A	ENSP00000513901.1:p.Lys713=
ENST00000698735.1:n.2254G>A
ENST00000698736.1:n.2254G>A
ENST00000698737.1:n.2254G>A
ENST00000698738.1:n.2254G>A
ENST00000698739.1:n.2254G>A
ENST00000372371.8:c.2139G>A MANE Select	ENSP00000361446.3:p.Lys713=
ENST00000372371.7:c.2139G>A	ENSP00000361446.3:p.Lys713=
ENST00000472014.5:n.361G>A
ENST00000473588.2:c.802G>A
NM_007055.3:c.2139G>A	NP_008986.2:p.Lys713=
NM_007055.4:c.2139G>A MANE Select	NP_008986.2:p.Lys713=