Canonical Allele Identifier: CA361490385
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 633531
ClinVar RCV Id: RCV000782038
dbSNP Id: rs587782999
MyVariant Identifiers: chr5:g.139494031G>A (hg19) chr5:g.140114446G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114446G>A , CM000667.2:g.140114446G>A GRCh38
NC_000005.9:g.139494031G>A , CM000667.1:g.139494031G>A GRCh37
NC_000005.8:g.139474215G>A NCBI36
NG_041813.1:g.5324G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.265G>A MANE Select ENSP00000332706.3:p.Ala89Thr
ENST00000505703.2:c.265G>A ENSP00000498560.1:p.Ala89Thr
ENST00000651386.1:c.265G>A ENSP00000499133.1:p.Ala89Thr
ENST00000331327.4:c.265G>A ENSP00000332706.3:p.Ala89Thr
NM_005859.4:c.265G>A NP_005850.1:p.Ala89Thr
NM_005859.5:c.265G>A MANE Select NP_005850.1:p.Ala89Thr
Search 100 bp 5'
Search 100 bp 3'