Canonical Allele Identifier: CA658683430

Gene: PURA

Linked Data

• ClinVar Variation Id: 488584
• ClinVar RCV Id: RCV000578389
• dbSNP Id: rs1554129114

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114906dup , CM000667.2:g.140114906dup	GRCh38
NC_000005.9:g.139494491dup , CM000667.1:g.139494491dup	GRCh37
NC_000005.8:g.139474675dup	NCBI36
NG_041813.1:g.5784dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.725dup MANE Select	ENSP00000332706.3:p.Phe243ValfsTer?
ENST00000651386.1:c.725dup	ENSP00000499133.1:p.Phe243ValfsTer?
ENST00000331327.4:c.725dup	ENSP00000332706.3:p.Phe243ValfsTer?
NM_005859.4:c.725dup	NP_005850.1:p.Phe243ValfsTer?
NM_005859.5:c.725dup MANE Select	NP_005850.1:p.Phe243ValfsTer?