Canonical Allele Identifier: CA361490740
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 522163
ClinVar RCV Id: RCV000624189
dbSNP Id: rs1554129084
MyVariant Identifiers: chr5:g.139494193C>G (hg19) chr5:g.140114608C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114608C>G , CM000667.2:g.140114608C>G GRCh38
NC_000005.9:g.139494193C>G , CM000667.1:g.139494193C>G GRCh37
NC_000005.8:g.139474377C>G NCBI36
NG_041813.1:g.5486C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.427C>G MANE Select ENSP00000332706.3:p.Leu143Val
ENST00000651386.1:c.427C>G ENSP00000499133.1:p.Leu143Val
ENST00000331327.4:c.427C>G ENSP00000332706.3:p.Leu143Val
NM_005859.4:c.427C>G NP_005850.1:p.Leu143Val
NM_005859.5:c.427C>G MANE Select NP_005850.1:p.Leu143Val
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