Canonical Allele Identifier: CA2609823739

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004710-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004710G>T , CM000672.2:g.78004710G>T	GRCh38
NC_000010.10:g.79764468G>T , CM000672.1:g.79764468G>T	GRCh37
NC_000010.9:g.79434474G>T	NCBI36
NG_029648.1:g.29831C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1307+6C>A
ENST00000698728.1:n.1826+6C>A
ENST00000698729.1:n.3372+6C>A
ENST00000698730.1:n.3372+6C>A
ENST00000698731.1:c.2106+6C>A	ENSP00000513898.1:n.2106+6C>A
ENST00000698732.1:c.*1108+6C>A	ENSP00000513899.1:n.*1108+6C>A
ENST00000698733.1:c.*1434+6C>A	ENSP00000513900.1:n.*1434+6C>A
ENST00000698734.1:c.2247+6C>A	ENSP00000513901.1:n.2247+6C>A
ENST00000698735.1:n.2362+6C>A
ENST00000698736.1:n.2362+6C>A
ENST00000698737.1:n.2362+6C>A
ENST00000698738.1:n.2362+6C>A
ENST00000698739.1:n.2362+6C>A
ENST00000372371.8:c.2247+6C>A MANE Select	ENSP00000361446.3:n.2247+6C>A
ENST00000372371.7:c.2247+6C>A	ENSP00000361446.3:n.2247+6C>A
ENST00000472014.5:n.469+6C>A
ENST00000473588.2:c.910+6C>A
NM_007055.3:c.2247+6C>A	NP_008986.2:n.2247+6C>A
NM_007055.4:c.2247+6C>A MANE Select	NP_008986.2:n.2247+6C>A