Canonical Allele Identifier: CA377341203

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009985-T-G
• MyVariant Identifiers: chr10:g.79769743T>G (hg19) ; chr10:g.78009985T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009985T>G , CM000672.2:g.78009985T>G	GRCh38
NC_000010.10:g.79769743T>G , CM000672.1:g.79769743T>G	GRCh37
NC_000010.9:g.79439749T>G	NCBI36
NG_029648.1:g.24556A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1228A>C
ENST00000698729.1:n.2774A>C
ENST00000698730.1:n.2774A>C
ENST00000698731.1:c.1508A>C	ENSP00000513898.1:p.Tyr503Ser
ENST00000698732.1:c.*510A>C	ENSP00000513899.1:n.*510A>C
ENST00000698733.1:c.*836A>C	ENSP00000513900.1:n.*836A>C
ENST00000698734.1:c.1649A>C	ENSP00000513901.1:p.Tyr550Ser
ENST00000698735.1:n.1764A>C
ENST00000698736.1:n.1764A>C
ENST00000698737.1:n.1764A>C
ENST00000698738.1:n.1764A>C
ENST00000698739.1:n.1764A>C
ENST00000372371.8:c.1649A>C MANE Select	ENSP00000361446.3:p.Tyr550Ser
ENST00000372371.7:c.1649A>C	ENSP00000361446.3:p.Tyr550Ser
ENST00000473588.2:c.451A>C
NM_007055.3:c.1649A>C	NP_008986.2:p.Tyr550Ser
NM_007055.4:c.1649A>C MANE Select	NP_008986.2:p.Tyr550Ser