Canonical Allele Identifier: CA302655
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 192338
ClinVar RCV Id: RCV000172933
dbSNP Id: rs793888531
MyVariant Identifiers: chr5:g.139494071T>G (hg19) chr5:g.140114486T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114486T>G , CM000667.2:g.140114486T>G GRCh38
NC_000005.9:g.139494071T>G , CM000667.1:g.139494071T>G GRCh37
NC_000005.8:g.139474255T>G NCBI36
NG_041813.1:g.5364T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.305T>G MANE Select ENSP00000332706.3:p.Leu102Arg
ENST00000505703.2:c.305T>G ENSP00000498560.1:p.Leu102Arg
ENST00000651386.1:c.305T>G ENSP00000499133.1:p.Leu102Arg
ENST00000331327.4:c.305T>G ENSP00000332706.3:p.Leu102Arg
NM_005859.4:c.305T>G NP_005850.1:p.Leu102Arg
NM_005859.5:c.305T>G MANE Select NP_005850.1:p.Leu102Arg
Search 100 bp 5'
Search 100 bp 3'