Canonical Allele Identifier: CA2609820180

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975830-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975830G>T , CM000672.2:g.77975830G>T	GRCh38
NC_000010.10:g.79735588G>T , CM000672.1:g.79735588G>T	GRCh37
NC_000010.9:g.79405594G>T	NCBI36
NG_029648.1:g.58711C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4311C>A
ENST00000698725.1:n.3491C>A
ENST00000698726.1:n.5051C>A
ENST00000698727.1:n.4784C>A
ENST00000698728.1:n.5400C>A
ENST00000698729.1:n.6848C>A
ENST00000698730.1:n.6946C>A
ENST00000698731.1:c.*1648C>A	ENSP00000513898.1:n.*1648C>A
ENST00000698732.1:c.*4510C>A	ENSP00000513899.1:n.*4510C>A
ENST00000698733.1:c.*5008C>A	ENSP00000513900.1:n.*5008C>A
ENST00000698734.1:c.*3994C>A	ENSP00000513901.1:n.*3994C>A
ENST00000698735.1:n.6172C>A
ENST00000698736.1:n.6585C>A
ENST00000372371.8:c.*1648C>A MANE Select	ENSP00000361446.3:n.*1648C>A
ENST00000372371.7:c.*1648C>A	ENSP00000361446.3:n.*1648C>A
ENST00000616246.4:c.472+4311C>A	ENSP00000483738.1:n.472+4311C>A
NM_007055.3:c.*1648C>A	NP_008986.2:n.*1648C>A
NM_007055.4:c.*1648C>A MANE Select	NP_008986.2:n.*1648C>A