Canonical Allele Identifier: CA2609824132

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004912-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004912G>A , CM000672.2:g.78004912G>A	GRCh38
NC_000010.10:g.79764670G>A , CM000672.1:g.79764670G>A	GRCh37
NC_000010.9:g.79434676G>A	NCBI36
NG_029648.1:g.29629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1135-24C>T
ENST00000698728.1:n.1654-24C>T
ENST00000698729.1:n.3200-24C>T
ENST00000698730.1:n.3200-24C>T
ENST00000698731.1:c.1934-24C>T	ENSP00000513898.1:n.1934-24C>T
ENST00000698732.1:c.*936-24C>T	ENSP00000513899.1:n.*936-24C>T
ENST00000698733.1:c.*1262-24C>T	ENSP00000513900.1:n.*1262-24C>T
ENST00000698734.1:c.2075-24C>T	ENSP00000513901.1:n.2075-24C>T
ENST00000698735.1:n.2190-24C>T
ENST00000698736.1:n.2190-24C>T
ENST00000698737.1:n.2190-24C>T
ENST00000698738.1:n.2190-24C>T
ENST00000698739.1:n.2190-24C>T
ENST00000372371.8:c.2075-24C>T MANE Select	ENSP00000361446.3:n.2075-24C>T
ENST00000372371.7:c.2075-24C>T	ENSP00000361446.3:n.2075-24C>T
ENST00000472014.5:n.297-24C>T
ENST00000473588.2:c.738-24C>T
NM_007055.3:c.2075-24C>T	NP_008986.2:n.2075-24C>T
NM_007055.4:c.2075-24C>T MANE Select	NP_008986.2:n.2075-24C>T