Canonical Allele Identifier: CA377347033

Gene: POLR3A

Linked Data

• dbSNP Id: rs1308459588
• gnomAD v3: 10-78025109-A-T
• gnomAD v4: 10-78025109-A-T
• MyVariant Identifiers: chr10:g.79784867A>T (hg19) ; chr10:g.78025109A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78025109A>T , CM000672.2:g.78025109A>T	GRCh38
NC_000010.10:g.79784867A>T , CM000672.1:g.79784867A>T	GRCh37
NC_000010.9:g.79454873A>T	NCBI36
NG_029648.1:g.9432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698729.1:n.460T>A
ENST00000698730.1:n.460T>A
ENST00000698731.1:c.352T>A	ENSP00000513898.1:p.Ser118Thr
ENST00000698732.1:c.352T>A	ENSP00000513899.1:p.Ser118Thr
ENST00000698733.1:c.352T>A	ENSP00000513900.1:p.Ser118Thr
ENST00000698734.1:c.352T>A	ENSP00000513901.1:p.Ser118Thr
ENST00000698735.1:n.467T>A
ENST00000698736.1:n.467T>A
ENST00000698737.1:n.467T>A
ENST00000698738.1:n.467T>A
ENST00000698739.1:n.467T>A
ENST00000372371.8:c.352T>A MANE Select	ENSP00000361446.3:p.Ser118Thr
ENST00000372371.7:c.352T>A	ENSP00000361446.3:p.Ser118Thr
NM_007055.3:c.352T>A	NP_008986.2:p.Ser118Thr
NM_007055.4:c.352T>A MANE Select	NP_008986.2:p.Ser118Thr