Canonical Allele Identifier: CA446830697
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1471101060
gnomAD v2: 5-139494453-G-A
gnomAD v4: 5-140114868-G-A
MyVariant Identifiers: chr5:g.139494453G>A (hg19) chr5:g.140114868G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114868G>A , CM000667.2:g.140114868G>A GRCh38
NC_000005.9:g.139494453G>A , CM000667.1:g.139494453G>A GRCh37
NC_000005.8:g.139474637G>A NCBI36
NG_041813.1:g.5746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.687G>A MANE Select ENSP00000332706.3:p.Lys229=
ENST00000651386.1:c.687G>A ENSP00000499133.1:p.Lys229=
ENST00000331327.4:c.687G>A ENSP00000332706.3:p.Lys229=
NM_005859.4:c.687G>A NP_005850.1:p.Lys229=
NM_005859.5:c.687G>A MANE Select NP_005850.1:p.Lys229=
Search 100 bp 5'
Search 100 bp 3'