Canonical Allele Identifier: CA594424626

Gene: POLR3A

Linked Data

• dbSNP Id: rs1355010937
• gnomAD v2: 10-79735680-G-A
• gnomAD v3: 10-77975922-G-A
• gnomAD v4: 10-77975922-G-A
• MyVariant Identifiers: chr10:g.79735680G>A (hg19) ; chr10:g.77975922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975922G>A , CM000672.2:g.77975922G>A	GRCh38
NC_000010.10:g.79735680G>A , CM000672.1:g.79735680G>A	GRCh37
NC_000010.9:g.79405686G>A	NCBI36
NG_029648.1:g.58619C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4219C>T
ENST00000698725.1:n.3399C>T
ENST00000698726.1:n.4959C>T
ENST00000698727.1:n.4692C>T
ENST00000698728.1:n.5308C>T
ENST00000698729.1:n.6756C>T
ENST00000698730.1:n.6854C>T
ENST00000698731.1:c.*1556C>T	ENSP00000513898.1:n.*1556C>T
ENST00000698732.1:c.*4418C>T	ENSP00000513899.1:n.*4418C>T
ENST00000698733.1:c.*4916C>T	ENSP00000513900.1:n.*4916C>T
ENST00000698734.1:c.*3902C>T	ENSP00000513901.1:n.*3902C>T
ENST00000698735.1:n.6080C>T
ENST00000698736.1:n.6493C>T
ENST00000372371.8:c.*1556C>T MANE Select	ENSP00000361446.3:n.*1556C>T
ENST00000372371.7:c.*1556C>T	ENSP00000361446.3:n.*1556C>T
ENST00000616246.4:c.472+4219C>T	ENSP00000483738.1:n.472+4219C>T
NM_007055.3:c.*1556C>T	NP_008986.2:n.*1556C>T
NM_007055.4:c.*1556C>T MANE Select	NP_008986.2:n.*1556C>T