Canonical Allele Identifier: CA2609823019

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78002146-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002146C>A , CM000672.2:g.78002146C>A	GRCh38
NC_000010.10:g.79761904C>A , CM000672.1:g.79761904C>A	GRCh37
NC_000010.9:g.79431910C>A	NCBI36
NG_029648.1:g.32395G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1419+51G>T
ENST00000698728.1:n.1938+51G>T
ENST00000698729.1:n.3484+51G>T
ENST00000698730.1:n.3484+51G>T
ENST00000698731.1:c.2218+51G>T	ENSP00000513898.1:n.2218+51G>T
ENST00000698732.1:c.*1220+51G>T	ENSP00000513899.1:n.*1220+51G>T
ENST00000698733.1:c.*1546+51G>T	ENSP00000513900.1:n.*1546+51G>T
ENST00000698734.1:c.2359+51G>T	ENSP00000513901.1:n.2359+51G>T
ENST00000698735.1:n.2474+51G>T
ENST00000698736.1:n.2474+51G>T
ENST00000698737.1:n.2474+51G>T
ENST00000698738.1:n.2474+51G>T
ENST00000698739.1:n.2474+51G>T
ENST00000372371.8:c.2359+51G>T MANE Select	ENSP00000361446.3:n.2359+51G>T
ENST00000372371.7:c.2359+51G>T	ENSP00000361446.3:n.2359+51G>T
ENST00000472014.5:n.469+2570G>T
NM_007055.3:c.2359+51G>T	NP_008986.2:n.2359+51G>T
NM_007055.4:c.2359+51G>T MANE Select	NP_008986.2:n.2359+51G>T