Canonical Allele Identifier: CA377326233

Gene: POLR3A

Linked Data

• dbSNP Id: rs1221237805
• gnomAD v2: 10-79740031-C-A
• gnomAD v3: 10-77980273-C-A
• gnomAD v4: 10-77980273-C-A
• MyVariant Identifiers: chr10:g.79740031C>A (hg19) ; chr10:g.77980273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980273C>A , CM000672.2:g.77980273C>A	GRCh38
NC_000010.10:g.79740031C>A , CM000672.1:g.79740031C>A	GRCh37
NC_000010.9:g.79410037C>A	NCBI36
NG_029648.1:g.54268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1809G>T
ENST00000698725.1:n.1562G>T
ENST00000698726.1:n.3122G>T
ENST00000698727.1:n.2855G>T
ENST00000698728.1:n.3471G>T
ENST00000698729.1:n.4919G>T
ENST00000698730.1:n.5017G>T
ENST00000698731.1:c.3751G>T	ENSP00000513898.1:p.Gly1251Cys
ENST00000698732.1:c.*2581G>T	ENSP00000513899.1:n.*2581G>T
ENST00000698733.1:c.*3079G>T	ENSP00000513900.1:n.*3079G>T
ENST00000698734.1:c.*2065G>T	ENSP00000513901.1:n.*2065G>T
ENST00000698735.1:n.4243G>T
ENST00000698736.1:n.4656G>T
ENST00000698737.1:n.4007G>T
ENST00000372371.8:c.3892G>T MANE Select	ENSP00000361446.3:p.Gly1298Cys
ENST00000372371.7:c.3892G>T	ENSP00000361446.3:p.Gly1298Cys
ENST00000616246.4:c.340G>T	ENSP00000483738.1:p.Gly114Cys
NM_007055.3:c.3892G>T	NP_008986.2:p.Gly1298Cys
NM_007055.4:c.3892G>T MANE Select	NP_008986.2:p.Gly1298Cys