Canonical Allele Identifier: CA5571088

Gene: POLR3A

Linked Data

• dbSNP Id: rs187721819
• ExAC: 10:79759783 G / A
• gnomAD v2: 10-79759783-G-A
• gnomAD v3: 10-78000025-G-A
• gnomAD v4: 10-78000025-G-A
• MyVariant Identifiers: chr10:g.79759783G>A (hg19) ; chr10:g.78000025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000025G>A , CM000672.2:g.78000025G>A	GRCh38
NC_000010.10:g.79759783G>A , CM000672.1:g.79759783G>A	GRCh37
NC_000010.9:g.79429789G>A	NCBI36
NG_029648.1:g.34516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1632C>T
ENST00000698728.1:n.2151C>T
ENST00000698729.1:n.3697C>T
ENST00000698730.1:n.3697C>T
ENST00000698731.1:c.2431C>T	ENSP00000513898.1:p.Leu811=
ENST00000698732.1:c.*1433C>T	ENSP00000513899.1:n.*1433C>T
ENST00000698733.1:c.*1759C>T	ENSP00000513900.1:n.*1759C>T
ENST00000698734.1:c.2572C>T	ENSP00000513901.1:p.Leu858=
ENST00000698735.1:n.2687C>T
ENST00000698736.1:n.2687C>T
ENST00000698737.1:n.2687C>T
ENST00000698738.1:n.2687C>T
ENST00000698739.1:n.2687C>T
ENST00000372371.8:c.2572C>T MANE Select	ENSP00000361446.3:p.Leu858=
ENST00000372371.7:c.2572C>T	ENSP00000361446.3:p.Leu858=
ENST00000472014.5:n.469+4691C>T
NM_007055.3:c.2572C>T	NP_008986.2:p.Leu858=
NM_007055.4:c.2572C>T MANE Select	NP_008986.2:p.Leu858=