Canonical Allele Identifier: CA594426168

Gene: POLR3A

Linked Data

• dbSNP Id: rs1460273417
• gnomAD v2: 10-79739896-T-C
• gnomAD v3: 10-77980138-T-C
• gnomAD v4: 10-77980138-T-C
• MyVariant Identifiers: chr10:g.79739896T>C (hg19) ; chr10:g.77980138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980138T>C , CM000672.2:g.77980138T>C	GRCh38
NC_000010.10:g.79739896T>C , CM000672.1:g.79739896T>C	GRCh37
NC_000010.9:g.79409902T>C	NCBI36
NG_029648.1:g.54403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+3A>G
ENST00000698725.1:n.1694+3A>G
ENST00000698726.1:n.3254+3A>G
ENST00000698727.1:n.2987+3A>G
ENST00000698728.1:n.3603+3A>G
ENST00000698729.1:n.5051+3A>G
ENST00000698730.1:n.5149+3A>G
ENST00000698731.1:c.3883+3A>G	ENSP00000513898.1:n.3883+3A>G
ENST00000698732.1:c.*2713+3A>G	ENSP00000513899.1:n.*2713+3A>G
ENST00000698733.1:c.*3211+3A>G	ENSP00000513900.1:n.*3211+3A>G
ENST00000698734.1:c.*2197+3A>G	ENSP00000513901.1:n.*2197+3A>G
ENST00000698735.1:n.4375+3A>G
ENST00000698736.1:n.4788+3A>G
ENST00000698737.1:n.4142A>G
ENST00000372371.8:c.4024+3A>G MANE Select	ENSP00000361446.3:n.4024+3A>G
ENST00000372371.7:c.4024+3A>G	ENSP00000361446.3:n.4024+3A>G
ENST00000616246.4:c.472+3A>G	ENSP00000483738.1:n.472+3A>G
NM_007055.3:c.4024+3A>G	NP_008986.2:n.4024+3A>G
NM_007055.4:c.4024+3A>G MANE Select	NP_008986.2:n.4024+3A>G