Canonical Allele Identifier: CA2609820165

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975816-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975816C>A , CM000672.2:g.77975816C>A	GRCh38
NC_000010.10:g.79735574C>A , CM000672.1:g.79735574C>A	GRCh37
NC_000010.9:g.79405580C>A	NCBI36
NG_029648.1:g.58725G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4325G>T
ENST00000698725.1:n.3505G>T
ENST00000698726.1:n.5065G>T
ENST00000698727.1:n.4798G>T
ENST00000698728.1:n.5414G>T
ENST00000698729.1:n.6862G>T
ENST00000698730.1:n.6960G>T
ENST00000698731.1:c.*1662G>T	ENSP00000513898.1:n.*1662G>T
ENST00000698732.1:c.*4524G>T	ENSP00000513899.1:n.*4524G>T
ENST00000698733.1:c.*5022G>T	ENSP00000513900.1:n.*5022G>T
ENST00000698734.1:c.*4008G>T	ENSP00000513901.1:n.*4008G>T
ENST00000698735.1:n.6186G>T
ENST00000698736.1:n.6599G>T
ENST00000372371.8:c.*1662G>T MANE Select	ENSP00000361446.3:n.*1662G>T
ENST00000372371.7:c.*1662G>T	ENSP00000361446.3:n.*1662G>T
ENST00000616246.4:c.472+4325G>T	ENSP00000483738.1:n.472+4325G>T
NM_007055.3:c.*1662G>T	NP_008986.2:n.*1662G>T
NM_007055.4:c.*1662G>T MANE Select	NP_008986.2:n.*1662G>T