Canonical Allele Identifier: CA446830816
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 3007056
ClinVar RCV Id: RCV003868695
MyVariant Identifiers: chr5:g.139493967C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114382C>T , CM000667.2:g.140114382C>T GRCh38
NC_000005.9:g.139493967C>T , CM000667.1:g.139493967C>T GRCh37
NC_000005.8:g.139474151C>T NCBI36
NG_041813.1:g.5260C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.201C>T MANE Select ENSP00000332706.3:p.Asp67=
ENST00000505703.2:c.201C>T ENSP00000498560.1:p.Asp67=
ENST00000651386.1:c.201C>T ENSP00000499133.1:p.Asp67=
ENST00000331327.4:c.201C>T ENSP00000332706.3:p.Asp67=
NM_005859.4:c.201C>T NP_005850.1:p.Asp67=
NM_005859.5:c.201C>T MANE Select NP_005850.1:p.Asp67=
Search 100 bp 5'
Search 100 bp 3'