Canonical Allele Identifier: CA361490953
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 946349
ClinVar RCV Id: RCV001217196
dbSNP Id: rs745982412
MyVariant Identifiers: chr5:g.139494284C>A (hg19) chr5:g.140114699C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114699C>A , CM000667.2:g.140114699C>A GRCh38
NC_000005.9:g.139494284C>A , CM000667.1:g.139494284C>A GRCh37
NC_000005.8:g.139474468C>A NCBI36
NG_041813.1:g.5577C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.518C>A MANE Select ENSP00000332706.3:p.Thr173Lys
ENST00000651386.1:c.518C>A ENSP00000499133.1:p.Thr173Lys
ENST00000331327.4:c.518C>A ENSP00000332706.3:p.Thr173Lys
NM_005859.4:c.518C>A NP_005850.1:p.Thr173Lys
NM_005859.5:c.518C>A MANE Select NP_005850.1:p.Thr173Lys
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