Canonical Allele Identifier: CA351295

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 242502
• ClinVar RCV Id: RCV000198773 ; RCV001542011 ; RCV002519817
• dbSNP Id: rs780755978
• ExAC: 10:79784849 GCTT / G
• gnomAD v2: 10-79784849-GCTT-G
• gnomAD v3: 10-78025091-GCTT-G
• gnomAD v4: 10-78025091-GCTT-G
• MyVariant Identifiers: chr10:g.79784850_79784852del (hg19) ; chr10:g.78025092_78025094del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78025097_78025099del , CM000672.2:g.78025097_78025099del	GRCh38
NC_000010.10:g.79784855_79784857del , CM000672.1:g.79784855_79784857del	GRCh37
NC_000010.9:g.79454861_79454863del	NCBI36
NG_029648.1:g.9447_9449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698729.1:n.475_477del
ENST00000698730.1:n.475_477del
ENST00000698731.1:c.367_369del	ENSP00000513898.1:p.Lys123del
ENST00000698732.1:c.367_369del	ENSP00000513899.1:p.Lys123del
ENST00000698733.1:c.367_369del	ENSP00000513900.1:p.Lys123del
ENST00000698734.1:c.367_369del	ENSP00000513901.1:p.Lys123del
ENST00000698735.1:n.482_484del
ENST00000698736.1:n.482_484del
ENST00000698737.1:n.482_484del
ENST00000698738.1:n.482_484del
ENST00000698739.1:n.482_484del
ENST00000372371.8:c.367_369del MANE Select	ENSP00000361446.3:p.Lys123del
ENST00000372371.7:c.367_369del	ENSP00000361446.3:p.Lys123del
NM_007055.3:c.367_369del	NP_008986.2:p.Lys123del
NM_007055.4:c.367_369del MANE Select	NP_008986.2:p.Lys123del