Canonical Allele Identifier: CA3437440
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1579259
ClinVar RCV Id: RCV002093140
dbSNP Id: rs149010278
ExAC: 5:139494033 C / G
gnomAD v2: 5-139494033-C-G
gnomAD v3: 5-140114448-C-G
gnomAD v4: 5-140114448-C-G
MyVariant Identifiers: chr5:g.139494033C>G (hg19) chr5:g.140114448C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114448C>G , CM000667.2:g.140114448C>G GRCh38
NC_000005.9:g.139494033C>G , CM000667.1:g.139494033C>G GRCh37
NC_000005.8:g.139474217C>G NCBI36
NG_041813.1:g.5326C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.267C>G MANE Select ENSP00000332706.3:p.Ala89=
ENST00000505703.2:c.267C>G ENSP00000498560.1:p.Ala89=
ENST00000651386.1:c.267C>G ENSP00000499133.1:p.Ala89=
ENST00000331327.4:c.267C>G ENSP00000332706.3:p.Ala89=
NM_005859.4:c.267C>G NP_005850.1:p.Ala89=
NM_005859.5:c.267C>G MANE Select NP_005850.1:p.Ala89=
Search 100 bp 5'
Search 100 bp 3'