Canonical Allele Identifier: CA16618126
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 419325
ClinVar RCV Id: RCV000482998
dbSNP Id: rs587782992
MyVariant Identifiers: chr5:g.139494073_139494074dupTC (hg19) chr5:g.140114488_140114489dupTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114488_140114489dup , CM000667.2:g.140114488_140114489dup GRCh38
NC_000005.9:g.139494073_139494074dup , CM000667.1:g.139494073_139494074dup GRCh37
NC_000005.8:g.139474257_139474258dup NCBI36
NG_041813.1:g.5366_5367dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.307_308dup MANE Select ENSP00000332706.3:p.Met104ProfsTer?
ENST00000505703.2:c.307_308dup ENSP00000498560.1:p.Met104ProfsTer?
ENST00000651386.1:c.307_308dup ENSP00000499133.1:p.Met104ProfsTer?
ENST00000331327.4:c.307_308dup ENSP00000332706.3:p.Met104ProfsTer?
NM_005859.4:c.307_308dup NP_005850.1:p.Met104ProfsTer?
NM_005859.5:c.307_308dup MANE Select NP_005850.1:p.Met104ProfsTer?
Search 100 bp 5'
Search 100 bp 3'