Canonical Allele Identifier: CA361491182
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2498984
ClinVar RCV Id: RCV003223193
MyVariant Identifiers: chr5:g.139494393C>G (hg19) chr5:g.140114808C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114808C>G , CM000667.2:g.140114808C>G GRCh38
NC_000005.9:g.139494393C>G , CM000667.1:g.139494393C>G GRCh37
NC_000005.8:g.139474577C>G NCBI36
NG_041813.1:g.5686C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.627C>G MANE Select ENSP00000332706.3:p.Tyr209Ter
ENST00000651386.1:c.627C>G ENSP00000499133.1:p.Tyr209Ter
ENST00000331327.4:c.627C>G ENSP00000332706.3:p.Tyr209Ter
NM_005859.4:c.627C>G NP_005850.1:p.Tyr209Ter
NM_005859.5:c.627C>G MANE Select NP_005850.1:p.Tyr209Ter
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