Canonical Allele Identifier: CA377335571

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1051646
• ClinVar RCV Id: RCV001359714 ; RCV001541999 ; RCV003490220
• dbSNP Id: rs1211210077
• gnomAD v2: 10-79759813-A-G
• gnomAD v3: 10-78000055-A-G
• gnomAD v4: 10-78000055-A-G
• MyVariant Identifiers: chr10:g.79759813A>G (hg19) ; chr10:g.78000055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000055A>G , CM000672.2:g.78000055A>G	GRCh38
NC_000010.10:g.79759813A>G , CM000672.1:g.79759813A>G	GRCh37
NC_000010.9:g.79429819A>G	NCBI36
NG_029648.1:g.34486T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1602T>C
ENST00000698728.1:n.2121T>C
ENST00000698729.1:n.3667T>C
ENST00000698730.1:n.3667T>C
ENST00000698731.1:c.2401T>C	ENSP00000513898.1:p.Phe801Leu
ENST00000698732.1:c.*1403T>C	ENSP00000513899.1:n.*1403T>C
ENST00000698733.1:c.*1729T>C	ENSP00000513900.1:n.*1729T>C
ENST00000698734.1:c.2542T>C	ENSP00000513901.1:p.Phe848Leu
ENST00000698735.1:n.2657T>C
ENST00000698736.1:n.2657T>C
ENST00000698737.1:n.2657T>C
ENST00000698738.1:n.2657T>C
ENST00000698739.1:n.2657T>C
ENST00000372371.8:c.2542T>C MANE Select	ENSP00000361446.3:p.Phe848Leu
ENST00000372371.7:c.2542T>C	ENSP00000361446.3:p.Phe848Leu
ENST00000472014.5:n.469+4661T>C
NM_007055.3:c.2542T>C	NP_008986.2:p.Phe848Leu
NM_007055.4:c.2542T>C MANE Select	NP_008986.2:p.Phe848Leu