Canonical Allele Identifier: CA2609823025

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78002154-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002154A>G , CM000672.2:g.78002154A>G	GRCh38
NC_000010.10:g.79761912A>G , CM000672.1:g.79761912A>G	GRCh37
NC_000010.9:g.79431918A>G	NCBI36
NG_029648.1:g.32387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1419+43T>C
ENST00000698728.1:n.1938+43T>C
ENST00000698729.1:n.3484+43T>C
ENST00000698730.1:n.3484+43T>C
ENST00000698731.1:c.2218+43T>C	ENSP00000513898.1:n.2218+43T>C
ENST00000698732.1:c.*1220+43T>C	ENSP00000513899.1:n.*1220+43T>C
ENST00000698733.1:c.*1546+43T>C	ENSP00000513900.1:n.*1546+43T>C
ENST00000698734.1:c.2359+43T>C	ENSP00000513901.1:n.2359+43T>C
ENST00000698735.1:n.2474+43T>C
ENST00000698736.1:n.2474+43T>C
ENST00000698737.1:n.2474+43T>C
ENST00000698738.1:n.2474+43T>C
ENST00000698739.1:n.2474+43T>C
ENST00000372371.8:c.2359+43T>C MANE Select	ENSP00000361446.3:n.2359+43T>C
ENST00000372371.7:c.2359+43T>C	ENSP00000361446.3:n.2359+43T>C
ENST00000472014.5:n.469+2562T>C
NM_007055.3:c.2359+43T>C	NP_008986.2:n.2359+43T>C
NM_007055.4:c.2359+43T>C MANE Select	NP_008986.2:n.2359+43T>C