Canonical Allele Identifier: CA3437445
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2147644
ClinVar RCV Id: RCV003077294
dbSNP Id: rs566627139
ExAC: 5:139494048 C / G
gnomAD v2: 5-139494048-C-G
gnomAD v3: 5-140114463-C-G
gnomAD v4: 5-140114463-C-G
MyVariant Identifiers: chr5:g.139494048C>G (hg19) chr5:g.140114463C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114463C>G , CM000667.2:g.140114463C>G GRCh38
NC_000005.9:g.139494048C>G , CM000667.1:g.139494048C>G GRCh37
NC_000005.8:g.139474232C>G NCBI36
NG_041813.1:g.5341C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.282C>G MANE Select ENSP00000332706.3:p.Gly94=
ENST00000505703.2:c.282C>G ENSP00000498560.1:p.Gly94=
ENST00000651386.1:c.282C>G ENSP00000499133.1:p.Gly94=
ENST00000331327.4:c.282C>G ENSP00000332706.3:p.Gly94=
NM_005859.4:c.282C>G NP_005850.1:p.Gly94=
NM_005859.5:c.282C>G MANE Select NP_005850.1:p.Gly94=
Search 100 bp 5'
Search 100 bp 3'