Canonical Allele Identifier: CA930222706

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847340132
• gnomAD v3: 10-77999927-C-T
• gnomAD v4: 10-77999927-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999927C>T , CM000672.2:g.77999927C>T	GRCh38
NC_000010.10:g.79759685C>T , CM000672.1:g.79759685C>T	GRCh37
NC_000010.9:g.79429691C>T	NCBI36
NG_029648.1:g.34614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+54G>A
ENST00000698728.1:n.2195+54G>A
ENST00000698729.1:n.3741+54G>A
ENST00000698730.1:n.3741+54G>A
ENST00000698731.1:c.2475+54G>A	ENSP00000513898.1:n.2475+54G>A
ENST00000698732.1:c.*1477+54G>A	ENSP00000513899.1:n.*1477+54G>A
ENST00000698733.1:c.*1803+54G>A	ENSP00000513900.1:n.*1803+54G>A
ENST00000698734.1:c.2616+54G>A	ENSP00000513901.1:n.2616+54G>A
ENST00000698735.1:n.2731+54G>A
ENST00000698736.1:n.2731+54G>A
ENST00000698737.1:n.2731+54G>A
ENST00000698738.1:n.2731+54G>A
ENST00000698739.1:n.2731+54G>A
ENST00000372371.8:c.2616+54G>A MANE Select	ENSP00000361446.3:n.2616+54G>A
ENST00000372371.7:c.2616+54G>A	ENSP00000361446.3:n.2616+54G>A
ENST00000472014.5:n.469+4789G>A
NM_007055.3:c.2616+54G>A	NP_008986.2:n.2616+54G>A
NM_007055.4:c.2616+54G>A MANE Select	NP_008986.2:n.2616+54G>A