Canonical Allele Identifier: CA2609822086

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78000124-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000124G>A , CM000672.2:g.78000124G>A	GRCh38
NC_000010.10:g.79759882G>A , CM000672.1:g.79759882G>A	GRCh37
NC_000010.9:g.79429888G>A	NCBI36
NG_029648.1:g.34417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1539-6C>T
ENST00000698728.1:n.2058-6C>T
ENST00000698729.1:n.3604-6C>T
ENST00000698730.1:n.3604-6C>T
ENST00000698731.1:c.2338-6C>T	ENSP00000513898.1:n.2338-6C>T
ENST00000698732.1:c.*1340-6C>T	ENSP00000513899.1:n.*1340-6C>T
ENST00000698733.1:c.*1666-6C>T	ENSP00000513900.1:n.*1666-6C>T
ENST00000698734.1:c.2479-6C>T	ENSP00000513901.1:n.2479-6C>T
ENST00000698735.1:n.2594-6C>T
ENST00000698736.1:n.2594-6C>T
ENST00000698737.1:n.2594-6C>T
ENST00000698738.1:n.2594-6C>T
ENST00000698739.1:n.2594-6C>T
ENST00000372371.8:c.2479-6C>T MANE Select	ENSP00000361446.3:n.2479-6C>T
ENST00000372371.7:c.2479-6C>T	ENSP00000361446.3:n.2479-6C>T
ENST00000472014.5:n.469+4592C>T
NM_007055.3:c.2479-6C>T	NP_008986.2:n.2479-6C>T
NM_007055.4:c.2479-6C>T MANE Select	NP_008986.2:n.2479-6C>T