Canonical Allele Identifier: CA361491083
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 986128
ClinVar RCV Id: RCV001267380
dbSNP Id: rs1763051158
MyVariant Identifiers: chr5:g.139494350T>A (hg19) chr5:g.140114765T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114765T>A , CM000667.2:g.140114765T>A GRCh38
NC_000005.9:g.139494350T>A , CM000667.1:g.139494350T>A GRCh37
NC_000005.8:g.139474534T>A NCBI36
NG_041813.1:g.5643T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.584T>A MANE Select ENSP00000332706.3:p.Leu195His
ENST00000651386.1:c.584T>A ENSP00000499133.1:p.Leu195His
ENST00000331327.4:c.584T>A ENSP00000332706.3:p.Leu195His
NM_005859.4:c.584T>A NP_005850.1:p.Leu195His
NM_005859.5:c.584T>A MANE Select NP_005850.1:p.Leu195His
Search 100 bp 5'
Search 100 bp 3'