Canonical Allele Identifier: CA344248

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78021617C>T , CM000672.2:g.78021617C>T	GRCh38
NC_000010.10:g.79781375C>T , CM000672.1:g.79781375C>T	GRCh37
NC_000010.9:g.79451381C>T	NCBI36
NG_029648.1:g.12924G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.1114G>A MANE Select	NP_008986.2:p.Asp372Asn
ENST00000372371.8:c.1114G>A MANE Select	ENSP00000361446.3:p.Asp372Asn
NM_007055.3:c.1114G>A	NP_008986.2:p.Asp372Asn
ENST00000372371.7:c.1114G>A	ENSP00000361446.3:p.Asp372Asn
ENST00000698729.1:n.1222G>A
ENST00000698730.1:n.1222G>A
ENST00000698731.1:c.1114G>A	ENSP00000513898.1:p.Asp372Asn
ENST00000698732.1:c.1114G>A	ENSP00000513899.1:p.Asp372Asn
ENST00000698733.1:c.1114G>A	ENSP00000513900.1:p.Asp372Asn
ENST00000698734.1:c.1114G>A	ENSP00000513901.1:p.Asp372Asn
ENST00000698735.1:n.1229G>A
ENST00000698736.1:n.1229G>A
ENST00000698737.1:n.1229G>A
ENST00000698738.1:n.1229G>A
ENST00000698739.1:n.1229G>A