Canonical Allele Identifier: CA1139659103
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 985968
ClinVar RCV Id: RCV001267156
dbSNP Id: rs1763049893
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114714dup , CM000667.2:g.140114714dup GRCh38
NC_000005.9:g.139494299dup , CM000667.1:g.139494299dup GRCh37
NC_000005.8:g.139474483dup NCBI36
NG_041813.1:g.5592dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.533dup MANE Select ENSP00000332706.3:p.Gly179TrpfsTer22
ENST00000651386.1:c.533dup ENSP00000499133.1:p.Gly179TrpfsTer22
ENST00000331327.4:c.533dup ENSP00000332706.3:p.Gly179TrpfsTer22
NM_005859.4:c.533dup NP_005850.1:p.Gly179TrpfsTer22
NM_005859.5:c.533dup MANE Select NP_005850.1:p.Gly179TrpfsTer22
Search 100 bp 5'
Search 100 bp 3'