Canonical Allele Identifier: CA377326214

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2099756
• ClinVar RCV Id: RCV003021872
• MyVariant Identifiers: chr10:g.79740025C>G (hg19) ; chr10:g.77980267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980267C>G , CM000672.2:g.77980267C>G	GRCh38
NC_000010.10:g.79740025C>G , CM000672.1:g.79740025C>G	GRCh37
NC_000010.9:g.79410031C>G	NCBI36
NG_029648.1:g.54274G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1815G>C
ENST00000698725.1:n.1568G>C
ENST00000698726.1:n.3128G>C
ENST00000698727.1:n.2861G>C
ENST00000698728.1:n.3477G>C
ENST00000698729.1:n.4925G>C
ENST00000698730.1:n.5023G>C
ENST00000698731.1:c.3757G>C	ENSP00000513898.1:p.Val1253Leu
ENST00000698732.1:c.*2587G>C	ENSP00000513899.1:n.*2587G>C
ENST00000698733.1:c.*3085G>C	ENSP00000513900.1:n.*3085G>C
ENST00000698734.1:c.*2071G>C	ENSP00000513901.1:n.*2071G>C
ENST00000698735.1:n.4249G>C
ENST00000698736.1:n.4662G>C
ENST00000698737.1:n.4013G>C
ENST00000372371.8:c.3898G>C MANE Select	ENSP00000361446.3:p.Val1300Leu
ENST00000372371.7:c.3898G>C	ENSP00000361446.3:p.Val1300Leu
ENST00000616246.4:c.346G>C	ENSP00000483738.1:p.Val116Leu
NM_007055.3:c.3898G>C	NP_008986.2:p.Val1300Leu
NM_007055.4:c.3898G>C MANE Select	NP_008986.2:p.Val1300Leu