Canonical Allele Identifier: CA361491177
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1704887
ClinVar RCV Id: RCV002283214
MyVariant Identifiers: chr5:g.139494391T>G (hg19) chr5:g.140114806T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114806T>G , CM000667.2:g.140114806T>G GRCh38
NC_000005.9:g.139494391T>G , CM000667.1:g.139494391T>G GRCh37
NC_000005.8:g.139474575T>G NCBI36
NG_041813.1:g.5684T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.625T>G MANE Select ENSP00000332706.3:p.Tyr209Asp
ENST00000651386.1:c.625T>G ENSP00000499133.1:p.Tyr209Asp
ENST00000331327.4:c.625T>G ENSP00000332706.3:p.Tyr209Asp
NM_005859.4:c.625T>G NP_005850.1:p.Tyr209Asp
NM_005859.5:c.625T>G MANE Select NP_005850.1:p.Tyr209Asp
Search 100 bp 5'
Search 100 bp 3'