Canonical Allele Identifier: CA930254251

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847082931
• gnomAD v3: 10-77975822-G-A
• gnomAD v4: 10-77975822-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975822G>A , CM000672.2:g.77975822G>A	GRCh38
NC_000010.10:g.79735580G>A , CM000672.1:g.79735580G>A	GRCh37
NC_000010.9:g.79405586G>A	NCBI36
NG_029648.1:g.58719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4319C>T
ENST00000698725.1:n.3499C>T
ENST00000698726.1:n.5059C>T
ENST00000698727.1:n.4792C>T
ENST00000698728.1:n.5408C>T
ENST00000698729.1:n.6856C>T
ENST00000698730.1:n.6954C>T
ENST00000698731.1:c.*1656C>T	ENSP00000513898.1:n.*1656C>T
ENST00000698732.1:c.*4518C>T	ENSP00000513899.1:n.*4518C>T
ENST00000698733.1:c.*5016C>T	ENSP00000513900.1:n.*5016C>T
ENST00000698734.1:c.*4002C>T	ENSP00000513901.1:n.*4002C>T
ENST00000698735.1:n.6180C>T
ENST00000698736.1:n.6593C>T
ENST00000372371.8:c.*1656C>T MANE Select	ENSP00000361446.3:n.*1656C>T
ENST00000372371.7:c.*1656C>T	ENSP00000361446.3:n.*1656C>T
ENST00000616246.4:c.472+4319C>T	ENSP00000483738.1:n.472+4319C>T
NM_007055.3:c.*1656C>T	NP_008986.2:n.*1656C>T
NM_007055.4:c.*1656C>T MANE Select	NP_008986.2:n.*1656C>T