Canonical Allele Identifier: CA2609821078

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77979993-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77979993A>C , CM000672.2:g.77979993A>C	GRCh38
NC_000010.10:g.79739751A>C , CM000672.1:g.79739751A>C	GRCh37
NC_000010.9:g.79409757A>C	NCBI36
NG_029648.1:g.54548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+148T>G
ENST00000698725.1:n.1694+148T>G
ENST00000698726.1:n.3254+148T>G
ENST00000698727.1:n.2987+148T>G
ENST00000698728.1:n.3603+148T>G
ENST00000698729.1:n.5051+148T>G
ENST00000698730.1:n.5149+148T>G
ENST00000698731.1:c.3883+148T>G	ENSP00000513898.1:n.3883+148T>G
ENST00000698732.1:c.*2713+148T>G	ENSP00000513899.1:n.*2713+148T>G
ENST00000698733.1:c.*3211+148T>G	ENSP00000513900.1:n.*3211+148T>G
ENST00000698734.1:c.*2197+148T>G	ENSP00000513901.1:n.*2197+148T>G
ENST00000698735.1:n.4375+148T>G
ENST00000698736.1:n.4788+148T>G
ENST00000372371.8:c.4024+148T>G MANE Select	ENSP00000361446.3:n.4024+148T>G
ENST00000372371.7:c.4024+148T>G	ENSP00000361446.3:n.4024+148T>G
ENST00000616246.4:c.472+148T>G	ENSP00000483738.1:n.472+148T>G
NM_007055.3:c.4024+148T>G	NP_008986.2:n.4024+148T>G
NM_007055.4:c.4024+148T>G MANE Select	NP_008986.2:n.4024+148T>G