Canonical Allele Identifier: CA361490962
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2847598
ClinVar RCV Id: RCV003750212
MyVariant Identifiers: chr5:g.139494290A>G (hg19) chr5:g.140114705A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114705A>G , CM000667.2:g.140114705A>G GRCh38
NC_000005.9:g.139494290A>G , CM000667.1:g.139494290A>G GRCh37
NC_000005.8:g.139474474A>G NCBI36
NG_041813.1:g.5583A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.524A>G MANE Select ENSP00000332706.3:p.Asn175Ser
ENST00000651386.1:c.524A>G ENSP00000499133.1:p.Asn175Ser
ENST00000331327.4:c.524A>G ENSP00000332706.3:p.Asn175Ser
NM_005859.4:c.524A>G NP_005850.1:p.Asn175Ser
NM_005859.5:c.524A>G MANE Select NP_005850.1:p.Asn175Ser
Search 100 bp 5'
Search 100 bp 3'