Canonical Allele Identifier: CA377341003

Gene: POLR3A

Linked Data

• dbSNP Id: rs1242107353
• gnomAD v3: 10-78009914-C-T
• gnomAD v4: 10-78009914-C-T
• MyVariant Identifiers: chr10:g.79769672C>T (hg19) ; chr10:g.78009914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009914C>T , CM000672.2:g.78009914C>T	GRCh38
NC_000010.10:g.79769672C>T , CM000672.1:g.79769672C>T	GRCh37
NC_000010.9:g.79439678C>T	NCBI36
NG_029648.1:g.24627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1299G>A
ENST00000698729.1:n.2845G>A
ENST00000698730.1:n.2845G>A
ENST00000698731.1:c.1579G>A	ENSP00000513898.1:p.Gly527Ser
ENST00000698732.1:c.*581G>A	ENSP00000513899.1:n.*581G>A
ENST00000698733.1:c.*907G>A	ENSP00000513900.1:n.*907G>A
ENST00000698734.1:c.1720G>A	ENSP00000513901.1:p.Gly574Ser
ENST00000698735.1:n.1835G>A
ENST00000698736.1:n.1835G>A
ENST00000698737.1:n.1835G>A
ENST00000698738.1:n.1835G>A
ENST00000698739.1:n.1835G>A
ENST00000372371.8:c.1720G>A MANE Select	ENSP00000361446.3:p.Gly574Ser
ENST00000372371.7:c.1720G>A	ENSP00000361446.3:p.Gly574Ser
ENST00000473588.2:c.522G>A
NM_007055.3:c.1720G>A	NP_008986.2:p.Gly574Ser
NM_007055.4:c.1720G>A MANE Select	NP_008986.2:p.Gly574Ser