Canonical Allele Identifier: CA5571343

Gene: POLR3A

Linked Data

• dbSNP Id: rs372916792
• ExAC: 10:79769628 G / C
• gnomAD v2: 10-79769628-G-C
• gnomAD v4: 10-78009870-G-C
• MyVariant Identifiers: chr10:g.79769628G>C (hg19) ; chr10:g.78009870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009870G>C , CM000672.2:g.78009870G>C	GRCh38
NC_000010.10:g.79769628G>C , CM000672.1:g.79769628G>C	GRCh37
NC_000010.9:g.79439634G>C	NCBI36
NG_029648.1:g.24671C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1343C>G
ENST00000698729.1:n.2889C>G
ENST00000698730.1:n.2889C>G
ENST00000698731.1:c.1623C>G	ENSP00000513898.1:p.Ile541Met
ENST00000698732.1:c.*625C>G	ENSP00000513899.1:n.*625C>G
ENST00000698733.1:c.*951C>G	ENSP00000513900.1:n.*951C>G
ENST00000698734.1:c.1764C>G	ENSP00000513901.1:p.Ile588Met
ENST00000698735.1:n.1879C>G
ENST00000698736.1:n.1879C>G
ENST00000698737.1:n.1879C>G
ENST00000698738.1:n.1879C>G
ENST00000698739.1:n.1879C>G
ENST00000372371.8:c.1764C>G MANE Select	ENSP00000361446.3:p.Ile588Met
ENST00000372371.7:c.1764C>G	ENSP00000361446.3:p.Ile588Met
ENST00000473588.2:c.566C>G
NM_007055.3:c.1764C>G	NP_008986.2:p.Ile588Met
NM_007055.4:c.1764C>G MANE Select	NP_008986.2:p.Ile588Met