Canonical Allele Identifier: CA377337034

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78002245-G-C
• MyVariant Identifiers: chr10:g.79762003G>C (hg19) ; chr10:g.78002245G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002245G>C , CM000672.2:g.78002245G>C	GRCh38
NC_000010.10:g.79762003G>C , CM000672.1:g.79762003G>C	GRCh37
NC_000010.9:g.79432009G>C	NCBI36
NG_029648.1:g.32296C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1371C>G
ENST00000698728.1:n.1890C>G
ENST00000698729.1:n.3436C>G
ENST00000698730.1:n.3436C>G
ENST00000698731.1:c.2170C>G	ENSP00000513898.1:p.Leu724Val
ENST00000698732.1:c.*1172C>G	ENSP00000513899.1:n.*1172C>G
ENST00000698733.1:c.*1498C>G	ENSP00000513900.1:n.*1498C>G
ENST00000698734.1:c.2311C>G	ENSP00000513901.1:p.Leu771Val
ENST00000698735.1:n.2426C>G
ENST00000698736.1:n.2426C>G
ENST00000698737.1:n.2426C>G
ENST00000698738.1:n.2426C>G
ENST00000698739.1:n.2426C>G
ENST00000372371.8:c.2311C>G MANE Select	ENSP00000361446.3:p.Leu771Val
ENST00000372371.7:c.2311C>G	ENSP00000361446.3:p.Leu771Val
ENST00000472014.5:n.469+2471C>G
ENST00000473588.2:c.974C>G
NM_007055.3:c.2311C>G	NP_008986.2:p.Leu771Val
NM_007055.4:c.2311C>G MANE Select	NP_008986.2:p.Leu771Val