Canonical Allele Identifier: CA377337844

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004720-A-G
• MyVariant Identifiers: chr10:g.79764478A>G (hg19) ; chr10:g.78004720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004720A>G , CM000672.2:g.78004720A>G	GRCh38
NC_000010.10:g.79764478A>G , CM000672.1:g.79764478A>G	GRCh37
NC_000010.9:g.79434484A>G	NCBI36
NG_029648.1:g.29821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1303T>C
ENST00000698728.1:n.1822T>C
ENST00000698729.1:n.3368T>C
ENST00000698730.1:n.3368T>C
ENST00000698731.1:c.2102T>C	ENSP00000513898.1:p.Leu701Pro
ENST00000698732.1:c.*1104T>C	ENSP00000513899.1:n.*1104T>C
ENST00000698733.1:c.*1430T>C	ENSP00000513900.1:n.*1430T>C
ENST00000698734.1:c.2243T>C	ENSP00000513901.1:p.Leu748Pro
ENST00000698735.1:n.2358T>C
ENST00000698736.1:n.2358T>C
ENST00000698737.1:n.2358T>C
ENST00000698738.1:n.2358T>C
ENST00000698739.1:n.2358T>C
ENST00000372371.8:c.2243T>C MANE Select	ENSP00000361446.3:p.Leu748Pro
ENST00000372371.7:c.2243T>C	ENSP00000361446.3:p.Leu748Pro
ENST00000472014.5:n.465T>C
ENST00000473588.2:c.906T>C
NM_007055.3:c.2243T>C	NP_008986.2:p.Leu748Pro
NM_007055.4:c.2243T>C MANE Select	NP_008986.2:p.Leu748Pro