Canonical Allele Identifier: CA377338429

Gene: POLR3A

Linked Data

• dbSNP Id: rs754959860
• gnomAD v2: 10-79764586-G-T
• MyVariant Identifiers: chr10:g.79764586G>T (hg19) ; chr10:g.78004828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004828G>T , CM000672.2:g.78004828G>T	GRCh38
NC_000010.10:g.79764586G>T , CM000672.1:g.79764586G>T	GRCh37
NC_000010.9:g.79434592G>T	NCBI36
NG_029648.1:g.29713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1195C>A
ENST00000698728.1:n.1714C>A
ENST00000698729.1:n.3260C>A
ENST00000698730.1:n.3260C>A
ENST00000698731.1:c.1994C>A	ENSP00000513898.1:p.Ala665Asp
ENST00000698732.1:c.*996C>A	ENSP00000513899.1:n.*996C>A
ENST00000698733.1:c.*1322C>A	ENSP00000513900.1:n.*1322C>A
ENST00000698734.1:c.2135C>A	ENSP00000513901.1:p.Ala712Asp
ENST00000698735.1:n.2250C>A
ENST00000698736.1:n.2250C>A
ENST00000698737.1:n.2250C>A
ENST00000698738.1:n.2250C>A
ENST00000698739.1:n.2250C>A
ENST00000372371.8:c.2135C>A MANE Select	ENSP00000361446.3:p.Ala712Asp
ENST00000372371.7:c.2135C>A	ENSP00000361446.3:p.Ala712Asp
ENST00000472014.5:n.357C>A
ENST00000473588.2:c.798C>A
NM_007055.3:c.2135C>A	NP_008986.2:p.Ala712Asp
NM_007055.4:c.2135C>A MANE Select	NP_008986.2:p.Ala712Asp