Canonical Allele Identifier: CA930254284

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847084103
• gnomAD v3: 10-77975910-C-A
• gnomAD v4: 10-77975910-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975910C>A , CM000672.2:g.77975910C>A	GRCh38
NC_000010.10:g.79735668C>A , CM000672.1:g.79735668C>A	GRCh37
NC_000010.9:g.79405674C>A	NCBI36
NG_029648.1:g.58631G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4231G>T
ENST00000698725.1:n.3411G>T
ENST00000698726.1:n.4971G>T
ENST00000698727.1:n.4704G>T
ENST00000698728.1:n.5320G>T
ENST00000698729.1:n.6768G>T
ENST00000698730.1:n.6866G>T
ENST00000698731.1:c.*1568G>T	ENSP00000513898.1:n.*1568G>T
ENST00000698732.1:c.*4430G>T	ENSP00000513899.1:n.*4430G>T
ENST00000698733.1:c.*4928G>T	ENSP00000513900.1:n.*4928G>T
ENST00000698734.1:c.*3914G>T	ENSP00000513901.1:n.*3914G>T
ENST00000698735.1:n.6092G>T
ENST00000698736.1:n.6505G>T
ENST00000372371.8:c.*1568G>T MANE Select	ENSP00000361446.3:n.*1568G>T
ENST00000372371.7:c.*1568G>T	ENSP00000361446.3:n.*1568G>T
ENST00000616246.4:c.472+4231G>T	ENSP00000483738.1:n.472+4231G>T
NM_007055.3:c.*1568G>T	NP_008986.2:n.*1568G>T
NM_007055.4:c.*1568G>T MANE Select	NP_008986.2:n.*1568G>T