Canonical Allele Identifier: CA249904
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 156413
ClinVar RCV Id: RCV000144531 RCV000656234 RCV001281647
dbSNP Id: rs587783001
MyVariant Identifiers: chr5:g.139494362G>C (hg19) chr5:g.140114777G>C (hg38)
PubMed: PMID:25439098
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114777G>C , CM000667.2:g.140114777G>C GRCh38
NC_000005.9:g.139494362G>C , CM000667.1:g.139494362G>C GRCh37
NC_000005.8:g.139474546G>C NCBI36
NG_041813.1:g.5655G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.596G>C MANE Select ENSP00000332706.3:p.Arg199Pro
ENST00000651386.1:c.596G>C ENSP00000499133.1:p.Arg199Pro
ENST00000331327.4:c.596G>C ENSP00000332706.3:p.Arg199Pro
NM_005859.4:c.596G>C NP_005850.1:p.Arg199Pro
NM_005859.5:c.596G>C MANE Select NP_005850.1:p.Arg199Pro
Search 100 bp 5'
Search 100 bp 3'