Canonical Allele Identifier: CA5571069

Gene: POLR3A

Linked Data

• dbSNP Id: rs542624086
• ExAC: 10:79759690 A / G
• gnomAD v2: 10-79759690-A-G
• gnomAD v3: 10-77999932-A-G
• gnomAD v4: 10-77999932-A-G
• MyVariant Identifiers: chr10:g.79759690A>G (hg19) ; chr10:g.77999932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999932A>G , CM000672.2:g.77999932A>G	GRCh38
NC_000010.10:g.79759690A>G , CM000672.1:g.79759690A>G	GRCh37
NC_000010.9:g.79429696A>G	NCBI36
NG_029648.1:g.34609T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+49T>C
ENST00000698728.1:n.2195+49T>C
ENST00000698729.1:n.3741+49T>C
ENST00000698730.1:n.3741+49T>C
ENST00000698731.1:c.2475+49T>C	ENSP00000513898.1:n.2475+49T>C
ENST00000698732.1:c.*1477+49T>C	ENSP00000513899.1:n.*1477+49T>C
ENST00000698733.1:c.*1803+49T>C	ENSP00000513900.1:n.*1803+49T>C
ENST00000698734.1:c.2616+49T>C	ENSP00000513901.1:n.2616+49T>C
ENST00000698735.1:n.2731+49T>C
ENST00000698736.1:n.2731+49T>C
ENST00000698737.1:n.2731+49T>C
ENST00000698738.1:n.2731+49T>C
ENST00000698739.1:n.2731+49T>C
ENST00000372371.8:c.2616+49T>C MANE Select	ENSP00000361446.3:n.2616+49T>C
ENST00000372371.7:c.2616+49T>C	ENSP00000361446.3:n.2616+49T>C
ENST00000472014.5:n.469+4784T>C
NM_007055.3:c.2616+49T>C	NP_008986.2:n.2616+49T>C
NM_007055.4:c.2616+49T>C MANE Select	NP_008986.2:n.2616+49T>C