Canonical Allele Identifier: CA1921495636

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847083830
• gnomAD v3: 10-77975890-G-A
• gnomAD v4: 10-77975890-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975890G>A , CM000672.2:g.77975890G>A	GRCh38
NC_000010.10:g.79735648G>A , CM000672.1:g.79735648G>A	GRCh37
NC_000010.9:g.79405654G>A	NCBI36
NG_029648.1:g.58651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4251C>T
ENST00000698725.1:n.3431C>T
ENST00000698726.1:n.4991C>T
ENST00000698727.1:n.4724C>T
ENST00000698728.1:n.5340C>T
ENST00000698729.1:n.6788C>T
ENST00000698730.1:n.6886C>T
ENST00000698731.1:c.*1588C>T	ENSP00000513898.1:n.*1588C>T
ENST00000698732.1:c.*4450C>T	ENSP00000513899.1:n.*4450C>T
ENST00000698733.1:c.*4948C>T	ENSP00000513900.1:n.*4948C>T
ENST00000698734.1:c.*3934C>T	ENSP00000513901.1:n.*3934C>T
ENST00000698735.1:n.6112C>T
ENST00000698736.1:n.6525C>T
ENST00000372371.8:c.*1588C>T MANE Select	ENSP00000361446.3:n.*1588C>T
ENST00000372371.7:c.*1588C>T	ENSP00000361446.3:n.*1588C>T
ENST00000616246.4:c.472+4251C>T	ENSP00000483738.1:n.472+4251C>T
NM_007055.3:c.*1588C>T	NP_008986.2:n.*1588C>T
NM_007055.4:c.*1588C>T MANE Select	NP_008986.2:n.*1588C>T