Canonical Allele Identifier: CA5570695

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 878320
• ClinVar RCV Id: RCV001104794 ; RCV001856411
• dbSNP Id: rs560414667
• ExAC: 10:79741290 C / T
• gnomAD v2: 10-79741290-C-T
• gnomAD v3: 10-77981532-C-T
• gnomAD v4: 10-77981532-C-T
• MyVariant Identifiers: chr10:g.79741290C>T (hg19) ; chr10:g.77981532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77981532C>T , CM000672.2:g.77981532C>T	GRCh38
NC_000010.10:g.79741290C>T , CM000672.1:g.79741290C>T	GRCh37
NC_000010.9:g.79411296C>T	NCBI36
NG_029648.1:g.53009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1704G>A
ENST00000698725.1:n.303G>A
ENST00000698726.1:n.3017G>A
ENST00000698727.1:n.2750G>A
ENST00000698728.1:n.3366G>A
ENST00000698729.1:n.4814G>A
ENST00000698730.1:n.4912G>A
ENST00000698731.1:c.3646G>A	ENSP00000513898.1:p.Ala1216Thr
ENST00000698732.1:c.*2476G>A	ENSP00000513899.1:n.*2476G>A
ENST00000698733.1:c.*2974G>A	ENSP00000513900.1:n.*2974G>A
ENST00000698734.1:c.*1960G>A	ENSP00000513901.1:n.*1960G>A
ENST00000698735.1:n.4138G>A
ENST00000698736.1:n.4551G>A
ENST00000698737.1:n.3902G>A
ENST00000372371.8:c.3787G>A MANE Select	ENSP00000361446.3:p.Ala1263Thr
ENST00000372371.7:c.3787G>A	ENSP00000361446.3:p.Ala1263Thr
ENST00000616246.4:c.235G>A	ENSP00000483738.1:p.Ala79Thr
NM_007055.3:c.3787G>A	NP_008986.2:p.Ala1263Thr
NM_007055.4:c.3787G>A MANE Select	NP_008986.2:p.Ala1263Thr