Canonical Allele Identifier: CA377341004

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2102320
• ClinVar RCV Id: RCV003019463
• MyVariant Identifiers: chr10:g.79769674A>G (hg19) ; chr10:g.78009916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009916A>G , CM000672.2:g.78009916A>G	GRCh38
NC_000010.10:g.79769674A>G , CM000672.1:g.79769674A>G	GRCh37
NC_000010.9:g.79439680A>G	NCBI36
NG_029648.1:g.24625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1297T>C
ENST00000698729.1:n.2843T>C
ENST00000698730.1:n.2843T>C
ENST00000698731.1:c.1577T>C	ENSP00000513898.1:p.Val526Ala
ENST00000698732.1:c.*579T>C	ENSP00000513899.1:n.*579T>C
ENST00000698733.1:c.*905T>C	ENSP00000513900.1:n.*905T>C
ENST00000698734.1:c.1718T>C	ENSP00000513901.1:p.Val573Ala
ENST00000698735.1:n.1833T>C
ENST00000698736.1:n.1833T>C
ENST00000698737.1:n.1833T>C
ENST00000698738.1:n.1833T>C
ENST00000698739.1:n.1833T>C
ENST00000372371.8:c.1718T>C MANE Select	ENSP00000361446.3:p.Val573Ala
ENST00000372371.7:c.1718T>C	ENSP00000361446.3:p.Val573Ala
ENST00000473588.2:c.520T>C
NM_007055.3:c.1718T>C	NP_008986.2:p.Val573Ala
NM_007055.4:c.1718T>C MANE Select	NP_008986.2:p.Val573Ala