Canonical Allele Identifier: CA3437433
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1584910
ClinVar RCV Id: RCV002102938
dbSNP Id: rs373688524
ExAC: 5:139493976 C / T
gnomAD v2: 5-139493976-C-T
gnomAD v3: 5-140114391-C-T
gnomAD v4: 5-140114391-C-T
MyVariant Identifiers: chr5:g.139493976C>T (hg19) chr5:g.140114391C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114391C>T , CM000667.2:g.140114391C>T GRCh38
NC_000005.9:g.139493976C>T , CM000667.1:g.139493976C>T GRCh37
NC_000005.8:g.139474160C>T NCBI36
NG_041813.1:g.5269C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.210C>T MANE Select ENSP00000332706.3:p.Asn70=
ENST00000505703.2:c.210C>T ENSP00000498560.1:p.Asn70=
ENST00000651386.1:c.210C>T ENSP00000499133.1:p.Asn70=
ENST00000331327.4:c.210C>T ENSP00000332706.3:p.Asn70=
NM_005859.4:c.210C>T NP_005850.1:p.Asn70=
NM_005859.5:c.210C>T MANE Select NP_005850.1:p.Asn70=
Search 100 bp 5'
Search 100 bp 3'