Canonical Allele Identifier: CA154732

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 130000
• ClinVar RCV Id: RCV000118024 ; RCV000889344 ; RCV001108263 ; RCV002498524
• dbSNP Id: rs34588967
• ExAC: 10:79769647 C / A
• gnomAD v2: 10-79769647-C-A
• gnomAD v3: 10-78009889-C-A
• gnomAD v4: 10-78009889-C-A
• MyVariant Identifiers: chr10:g.79769647C>A (hg19) ; chr10:g.78009889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009889C>A , CM000672.2:g.78009889C>A	GRCh38
NC_000010.10:g.79769647C>A , CM000672.1:g.79769647C>A	GRCh37
NC_000010.9:g.79439653C>A	NCBI36
NG_029648.1:g.24652G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1324G>T
ENST00000698729.1:n.2870G>T
ENST00000698730.1:n.2870G>T
ENST00000698731.1:c.1604G>T	ENSP00000513898.1:p.Arg535Leu
ENST00000698732.1:c.*606G>T	ENSP00000513899.1:n.*606G>T
ENST00000698733.1:c.*932G>T	ENSP00000513900.1:n.*932G>T
ENST00000698734.1:c.1745G>T	ENSP00000513901.1:p.Arg582Leu
ENST00000698735.1:n.1860G>T
ENST00000698736.1:n.1860G>T
ENST00000698737.1:n.1860G>T
ENST00000698738.1:n.1860G>T
ENST00000698739.1:n.1860G>T
ENST00000372371.8:c.1745G>T MANE Select	ENSP00000361446.3:p.Arg582Leu
ENST00000372371.7:c.1745G>T	ENSP00000361446.3:p.Arg582Leu
ENST00000473588.2:c.547G>T
NM_007055.3:c.1745G>T	NP_008986.2:p.Arg582Leu
NM_007055.4:c.1745G>T MANE Select	NP_008986.2:p.Arg582Leu