Canonical Allele Identifier: CA3437442
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 542078
ClinVar RCV Id: RCV000652456
dbSNP Id: rs774603280
ExAC: 5:139494036 G / A
gnomAD v2: 5-139494036-G-A
gnomAD v3: 5-140114451-G-A
gnomAD v4: 5-140114451-G-A
MyVariant Identifiers: chr5:g.139494036G>A (hg19) chr5:g.140114451G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114451G>A , CM000667.2:g.140114451G>A GRCh38
NC_000005.9:g.139494036G>A , CM000667.1:g.139494036G>A GRCh37
NC_000005.8:g.139474220G>A NCBI36
NG_041813.1:g.5329G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.270G>A MANE Select ENSP00000332706.3:p.Glu90=
ENST00000505703.2:c.270G>A ENSP00000498560.1:p.Glu90=
ENST00000651386.1:c.270G>A ENSP00000499133.1:p.Glu90=
ENST00000331327.4:c.270G>A ENSP00000332706.3:p.Glu90=
NM_005859.4:c.270G>A NP_005850.1:p.Glu90=
NM_005859.5:c.270G>A MANE Select NP_005850.1:p.Glu90=
Search 100 bp 5'
Search 100 bp 3'