Canonical Allele Identifier: CA470397139

Gene: POLR3A

Linked Data

• dbSNP Id: rs1441151558
• gnomAD v2: 10-79759787-T-C
• gnomAD v4: 10-78000029-T-C
• MyVariant Identifiers: chr10:g.79759787T>C (hg19) ; chr10:g.78000029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000029T>C , CM000672.2:g.78000029T>C	GRCh38
NC_000010.10:g.79759787T>C , CM000672.1:g.79759787T>C	GRCh37
NC_000010.9:g.79429793T>C	NCBI36
NG_029648.1:g.34512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1628A>G
ENST00000698728.1:n.2147A>G
ENST00000698729.1:n.3693A>G
ENST00000698730.1:n.3693A>G
ENST00000698731.1:c.2427A>G	ENSP00000513898.1:p.Glu809=
ENST00000698732.1:c.*1429A>G	ENSP00000513899.1:n.*1429A>G
ENST00000698733.1:c.*1755A>G	ENSP00000513900.1:n.*1755A>G
ENST00000698734.1:c.2568A>G	ENSP00000513901.1:p.Glu856=
ENST00000698735.1:n.2683A>G
ENST00000698736.1:n.2683A>G
ENST00000698737.1:n.2683A>G
ENST00000698738.1:n.2683A>G
ENST00000698739.1:n.2683A>G
ENST00000372371.8:c.2568A>G MANE Select	ENSP00000361446.3:p.Glu856=
ENST00000372371.7:c.2568A>G	ENSP00000361446.3:p.Glu856=
ENST00000472014.5:n.469+4687A>G
NM_007055.3:c.2568A>G	NP_008986.2:p.Glu856=
NM_007055.4:c.2568A>G MANE Select	NP_008986.2:p.Glu856=