Canonical Allele Identifier: CA5571342

Gene: POLR3A

Linked Data

• dbSNP Id: rs777345393
• ExAC: 10:79769621 C / A
• gnomAD v2: 10-79769621-C-A
• gnomAD v4: 10-78009863-C-A
• MyVariant Identifiers: chr10:g.79769621C>A (hg19) ; chr10:g.78009863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009863C>A , CM000672.2:g.78009863C>A	GRCh38
NC_000010.10:g.79769621C>A , CM000672.1:g.79769621C>A	GRCh37
NC_000010.9:g.79439627C>A	NCBI36
NG_029648.1:g.24678G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1349+1G>T
ENST00000698729.1:n.2895+1G>T
ENST00000698730.1:n.2895+1G>T
ENST00000698731.1:c.1629+1G>T	ENSP00000513898.1:n.1629+1G>T
ENST00000698732.1:c.*631+1G>T	ENSP00000513899.1:n.*631+1G>T
ENST00000698733.1:c.*957+1G>T	ENSP00000513900.1:n.*957+1G>T
ENST00000698734.1:c.1770+1G>T	ENSP00000513901.1:n.1770+1G>T
ENST00000698735.1:n.1885+1G>T
ENST00000698736.1:n.1885+1G>T
ENST00000698737.1:n.1885+1G>T
ENST00000698738.1:n.1885+1G>T
ENST00000698739.1:n.1885+1G>T
ENST00000372371.8:c.1770+1G>T MANE Select	ENSP00000361446.3:n.1770+1G>T
ENST00000372371.7:c.1770+1G>T	ENSP00000361446.3:n.1770+1G>T
ENST00000473588.2:c.572+1G>T
NM_007055.3:c.1770+1G>T	NP_008986.2:n.1770+1G>T
NM_007055.4:c.1770+1G>T MANE Select	NP_008986.2:n.1770+1G>T