Canonical Allele Identifier: CA377338153

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004781-T-G
• MyVariant Identifiers: chr10:g.79764539T>G (hg19) ; chr10:g.78004781T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004781T>G , CM000672.2:g.78004781T>G	GRCh38
NC_000010.10:g.79764539T>G , CM000672.1:g.79764539T>G	GRCh37
NC_000010.9:g.79434545T>G	NCBI36
NG_029648.1:g.29760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1242A>C
ENST00000698728.1:n.1761A>C
ENST00000698729.1:n.3307A>C
ENST00000698730.1:n.3307A>C
ENST00000698731.1:c.2041A>C	ENSP00000513898.1:p.Ile681Leu
ENST00000698732.1:c.*1043A>C	ENSP00000513899.1:n.*1043A>C
ENST00000698733.1:c.*1369A>C	ENSP00000513900.1:n.*1369A>C
ENST00000698734.1:c.2182A>C	ENSP00000513901.1:p.Ile728Leu
ENST00000698735.1:n.2297A>C
ENST00000698736.1:n.2297A>C
ENST00000698737.1:n.2297A>C
ENST00000698738.1:n.2297A>C
ENST00000698739.1:n.2297A>C
ENST00000372371.8:c.2182A>C MANE Select	ENSP00000361446.3:p.Ile728Leu
ENST00000372371.7:c.2182A>C	ENSP00000361446.3:p.Ile728Leu
ENST00000472014.5:n.404A>C
ENST00000473588.2:c.845A>C
NM_007055.3:c.2182A>C	NP_008986.2:p.Ile728Leu
NM_007055.4:c.2182A>C MANE Select	NP_008986.2:p.Ile728Leu