Canonical Allele Identifier: CA210211248

Gene: POLR3A

Linked Data

• dbSNP Id: rs1018107425
• gnomAD v2: 10-79769538-C-G
• gnomAD v3: 10-78009780-C-G
• gnomAD v4: 10-78009780-C-G
• MyVariant Identifiers: chr10:g.79769538C>G (hg19) ; chr10:g.78009780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009780C>G , CM000672.2:g.78009780C>G	GRCh38
NC_000010.10:g.79769538C>G , CM000672.1:g.79769538C>G	GRCh37
NC_000010.9:g.79439544C>G	NCBI36
NG_029648.1:g.24761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+84G>C
ENST00000698729.1:n.2895+84G>C
ENST00000698730.1:n.2895+84G>C
ENST00000698731.1:c.1629+84G>C	ENSP00000513898.1:n.1629+84G>C
ENST00000698732.1:c.*631+84G>C	ENSP00000513899.1:n.*631+84G>C
ENST00000698733.1:c.*957+84G>C	ENSP00000513900.1:n.*957+84G>C
ENST00000698734.1:c.1770+84G>C	ENSP00000513901.1:n.1770+84G>C
ENST00000698735.1:n.1885+84G>C
ENST00000698736.1:n.1885+84G>C
ENST00000698737.1:n.1885+84G>C
ENST00000698738.1:n.1885+84G>C
ENST00000698739.1:n.1885+84G>C
ENST00000372371.8:c.1770+84G>C MANE Select	ENSP00000361446.3:n.1770+84G>C
ENST00000372371.7:c.1770+84G>C	ENSP00000361446.3:n.1770+84G>C
ENST00000473588.2:c.572+84G>C
NM_007055.3:c.1770+84G>C	NP_008986.2:n.1770+84G>C
NM_007055.4:c.1770+84G>C MANE Select	NP_008986.2:n.1770+84G>C