Canonical Allele Identifier: CA377337030

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847364468
• gnomAD v4: 10-78002244-A-G
• MyVariant Identifiers: chr10:g.79762002A>G (hg19) ; chr10:g.78002244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002244A>G , CM000672.2:g.78002244A>G	GRCh38
NC_000010.10:g.79762002A>G , CM000672.1:g.79762002A>G	GRCh37
NC_000010.9:g.79432008A>G	NCBI36
NG_029648.1:g.32297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1372T>C
ENST00000698728.1:n.1891T>C
ENST00000698729.1:n.3437T>C
ENST00000698730.1:n.3437T>C
ENST00000698731.1:c.2171T>C	ENSP00000513898.1:p.Leu724Pro
ENST00000698732.1:c.*1173T>C	ENSP00000513899.1:n.*1173T>C
ENST00000698733.1:c.*1499T>C	ENSP00000513900.1:n.*1499T>C
ENST00000698734.1:c.2312T>C	ENSP00000513901.1:p.Leu771Pro
ENST00000698735.1:n.2427T>C
ENST00000698736.1:n.2427T>C
ENST00000698737.1:n.2427T>C
ENST00000698738.1:n.2427T>C
ENST00000698739.1:n.2427T>C
ENST00000372371.8:c.2312T>C MANE Select	ENSP00000361446.3:p.Leu771Pro
ENST00000372371.7:c.2312T>C	ENSP00000361446.3:p.Leu771Pro
ENST00000472014.5:n.469+2472T>C
ENST00000473588.2:c.975T>C
NM_007055.3:c.2312T>C	NP_008986.2:p.Leu771Pro
NM_007055.4:c.2312T>C MANE Select	NP_008986.2:p.Leu771Pro