Canonical Allele Identifier: CA3437477
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 589245
ClinVar RCV Id: RCV000951850 RCV002318668
dbSNP Id: rs746119626
ExAC: 5:139494297 G / C
gnomAD v2: 5-139494297-G-C
gnomAD v4: 5-140114712-G-C
MyVariant Identifiers: chr5:g.139494297G>C (hg19) chr5:g.140114712G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114712G>C , CM000667.2:g.140114712G>C GRCh38
NC_000005.9:g.139494297G>C , CM000667.1:g.139494297G>C GRCh37
NC_000005.8:g.139474481G>C NCBI36
NG_041813.1:g.5590G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.531G>C MANE Select ENSP00000332706.3:p.Gly177=
ENST00000651386.1:c.531G>C ENSP00000499133.1:p.Gly177=
ENST00000331327.4:c.531G>C ENSP00000332706.3:p.Gly177=
NM_005859.4:c.531G>C NP_005850.1:p.Gly177=
NM_005859.5:c.531G>C MANE Select NP_005850.1:p.Gly177=
Search 100 bp 5'
Search 100 bp 3'