Canonical Allele Identifier: CA5571354

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301068
• ClinVar RCV Id: RCV000295587 ; RCV000514179 ; RCV004537699 ; RCV002487343
• dbSNP Id: rs56214655
• ExAC: 10:79769668 T / A
• gnomAD v2: 10-79769668-T-A
• gnomAD v3: 10-78009910-T-A
• gnomAD v4: 10-78009910-T-A
• MyVariant Identifiers: chr10:g.79769668T>A (hg19) ; chr10:g.78009910T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009910T>A , CM000672.2:g.78009910T>A	GRCh38
NC_000010.10:g.79769668T>A , CM000672.1:g.79769668T>A	GRCh37
NC_000010.9:g.79439674T>A	NCBI36
NG_029648.1:g.24631A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1303A>T
ENST00000698729.1:n.2849A>T
ENST00000698730.1:n.2849A>T
ENST00000698731.1:c.1583A>T	ENSP00000513898.1:p.Lys528Met
ENST00000698732.1:c.*585A>T	ENSP00000513899.1:n.*585A>T
ENST00000698733.1:c.*911A>T	ENSP00000513900.1:n.*911A>T
ENST00000698734.1:c.1724A>T	ENSP00000513901.1:p.Lys575Met
ENST00000698735.1:n.1839A>T
ENST00000698736.1:n.1839A>T
ENST00000698737.1:n.1839A>T
ENST00000698738.1:n.1839A>T
ENST00000698739.1:n.1839A>T
ENST00000372371.8:c.1724A>T MANE Select	ENSP00000361446.3:p.Lys575Met
ENST00000372371.7:c.1724A>T	ENSP00000361446.3:p.Lys575Met
ENST00000473588.2:c.526A>T
NM_007055.3:c.1724A>T	NP_008986.2:p.Lys575Met
NM_007055.4:c.1724A>T MANE Select	NP_008986.2:p.Lys575Met