Canonical Allele Identifier: CA377333980

Gene: POLR3A

Linked Data

• dbSNP Id: rs758663237
• gnomAD v2: 10-79752990-G-T
• gnomAD v4: 10-77993232-G-T
• MyVariant Identifiers: chr10:g.79752990G>T (hg19) ; chr10:g.77993232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993232G>T , CM000672.2:g.77993232G>T	GRCh38
NC_000010.10:g.79752990G>T , CM000672.1:g.79752990G>T	GRCh37
NC_000010.9:g.79422996G>T	NCBI36
NG_029648.1:g.41309C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.20C>A
ENST00000698727.1:n.1812C>A
ENST00000698728.1:n.2331C>A
ENST00000698729.1:n.3877C>A
ENST00000698730.1:n.3877C>A
ENST00000698731.1:c.2611C>A	ENSP00000513898.1:p.Pro871Thr
ENST00000698732.1:c.*1613C>A	ENSP00000513899.1:n.*1613C>A
ENST00000698733.1:c.*1939C>A	ENSP00000513900.1:n.*1939C>A
ENST00000698734.1:c.*276C>A	ENSP00000513901.1:n.*276C>A
ENST00000698735.1:n.2867C>A
ENST00000698736.1:n.2867C>A
ENST00000698737.1:n.2867C>A
ENST00000698738.1:n.2867C>A
ENST00000698739.1:n.2867C>A
ENST00000372371.8:c.2752C>A MANE Select	ENSP00000361446.3:p.Pro918Thr
ENST00000372371.7:c.2752C>A	ENSP00000361446.3:p.Pro918Thr
ENST00000472014.5:n.605C>A
NM_007055.3:c.2752C>A	NP_008986.2:p.Pro918Thr
NM_007055.4:c.2752C>A MANE Select	NP_008986.2:p.Pro918Thr