Canonical Allele Identifier: CA2573139226
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1452546
ClinVar RCV Id: RCV001999862
dbSNP Id: rs2126749006
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114568dup , CM000667.2:g.140114568dup GRCh38
NC_000005.9:g.139494153dup , CM000667.1:g.139494153dup GRCh37
NC_000005.8:g.139474337dup NCBI36
NG_041813.1:g.5446dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.387dup MANE Select ENSP00000332706.3:p.Pro130AlafsTer?
ENST00000651386.1:c.387dup ENSP00000499133.1:p.Pro130AlafsTer?
ENST00000331327.4:c.387dup ENSP00000332706.3:p.Pro130AlafsTer?
NM_005859.4:c.387dup NP_005850.1:p.Pro130AlafsTer?
NM_005859.5:c.387dup MANE Select NP_005850.1:p.Pro130AlafsTer?
Search 100 bp 5'
Search 100 bp 3'