Canonical Allele Identifier: CA2609820173

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975824-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975824A>G , CM000672.2:g.77975824A>G	GRCh38
NC_000010.10:g.79735582A>G , CM000672.1:g.79735582A>G	GRCh37
NC_000010.9:g.79405588A>G	NCBI36
NG_029648.1:g.58717T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4317T>C
ENST00000698725.1:n.3497T>C
ENST00000698726.1:n.5057T>C
ENST00000698727.1:n.4790T>C
ENST00000698728.1:n.5406T>C
ENST00000698729.1:n.6854T>C
ENST00000698730.1:n.6952T>C
ENST00000698731.1:c.*1654T>C	ENSP00000513898.1:n.*1654T>C
ENST00000698732.1:c.*4516T>C	ENSP00000513899.1:n.*4516T>C
ENST00000698733.1:c.*5014T>C	ENSP00000513900.1:n.*5014T>C
ENST00000698734.1:c.*4000T>C	ENSP00000513901.1:n.*4000T>C
ENST00000698735.1:n.6178T>C
ENST00000698736.1:n.6591T>C
ENST00000372371.8:c.*1654T>C MANE Select	ENSP00000361446.3:n.*1654T>C
ENST00000372371.7:c.*1654T>C	ENSP00000361446.3:n.*1654T>C
ENST00000616246.4:c.472+4317T>C	ENSP00000483738.1:n.472+4317T>C
NM_007055.3:c.*1654T>C	NP_008986.2:n.*1654T>C
NM_007055.4:c.*1654T>C MANE Select	NP_008986.2:n.*1654T>C