Canonical Allele Identifier: CA10636057

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301009
• ClinVar RCV Id: RCV000401499
• dbSNP Id: rs45570840
• gnomAD v2: 10-79735913-G-A
• gnomAD v3: 10-77976155-G-A
• gnomAD v4: 10-77976155-G-A
• MyVariant Identifiers: chr10:g.79735913G>A (hg19) ; chr10:g.77976155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77976155G>A , CM000672.2:g.77976155G>A	GRCh38
NC_000010.10:g.79735913G>A , CM000672.1:g.79735913G>A	GRCh37
NC_000010.9:g.79405919G>A	NCBI36
NG_029648.1:g.58386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+3986C>T
ENST00000698725.1:n.3166C>T
ENST00000698726.1:n.4726C>T
ENST00000698727.1:n.4459C>T
ENST00000698728.1:n.5075C>T
ENST00000698729.1:n.6523C>T
ENST00000698730.1:n.6621C>T
ENST00000698731.1:c.*1323C>T	ENSP00000513898.1:n.*1323C>T
ENST00000698732.1:c.*4185C>T	ENSP00000513899.1:n.*4185C>T
ENST00000698733.1:c.*4683C>T	ENSP00000513900.1:n.*4683C>T
ENST00000698734.1:c.*3669C>T	ENSP00000513901.1:n.*3669C>T
ENST00000698735.1:n.5847C>T
ENST00000698736.1:n.6260C>T
ENST00000372371.8:c.*1323C>T MANE Select	ENSP00000361446.3:n.*1323C>T
ENST00000372371.7:c.*1323C>T	ENSP00000361446.3:n.*1323C>T
ENST00000616246.4:c.472+3986C>T	ENSP00000483738.1:n.472+3986C>T
NM_007055.3:c.*1323C>T	NP_008986.2:n.*1323C>T
NM_007055.4:c.*1323C>T MANE Select	NP_008986.2:n.*1323C>T