Canonical Allele Identifier: CA470397394

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78002243-C-A
• MyVariant Identifiers: chr10:g.79762001C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002243C>A , CM000672.2:g.78002243C>A	GRCh38
NC_000010.10:g.79762001C>A , CM000672.1:g.79762001C>A	GRCh37
NC_000010.9:g.79432007C>A	NCBI36
NG_029648.1:g.32298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1373G>T
ENST00000698728.1:n.1892G>T
ENST00000698729.1:n.3438G>T
ENST00000698730.1:n.3438G>T
ENST00000698731.1:c.2172G>T	ENSP00000513898.1:p.Leu724=
ENST00000698732.1:c.*1174G>T	ENSP00000513899.1:n.*1174G>T
ENST00000698733.1:c.*1500G>T	ENSP00000513900.1:n.*1500G>T
ENST00000698734.1:c.2313G>T	ENSP00000513901.1:p.Leu771=
ENST00000698735.1:n.2428G>T
ENST00000698736.1:n.2428G>T
ENST00000698737.1:n.2428G>T
ENST00000698738.1:n.2428G>T
ENST00000698739.1:n.2428G>T
ENST00000372371.8:c.2313G>T MANE Select	ENSP00000361446.3:p.Leu771=
ENST00000372371.7:c.2313G>T	ENSP00000361446.3:p.Leu771=
ENST00000472014.5:n.469+2473G>T
ENST00000473588.2:c.976G>T
NM_007055.3:c.2313G>T	NP_008986.2:p.Leu771=
NM_007055.4:c.2313G>T MANE Select	NP_008986.2:p.Leu771=