Canonical Allele Identifier: CA128789387
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 2117953
ClinVar RCV Id: RCV003053503
dbSNP Id: rs533257824
gnomAD v3: 5-140114219-C-T
gnomAD v4: 5-140114219-C-T
MyVariant Identifiers: chr5:g.139493804C>T (hg19) chr5:g.140114219C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114219C>T , CM000667.2:g.140114219C>T GRCh38
NC_000005.9:g.139493804C>T , CM000667.1:g.139493804C>T GRCh37
NC_000005.8:g.139473988C>T NCBI36
NG_041813.1:g.5097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.38C>T MANE Select ENSP00000332706.3:p.Ala13Val
ENST00000505703.2:c.38C>T ENSP00000498560.1:p.Ala13Val
ENST00000651386.1:c.38C>T ENSP00000499133.1:p.Ala13Val
ENST00000331327.4:c.38C>T ENSP00000332706.3:p.Ala13Val
ENST00000502351.1:n.461C>T
ENST00000505703.1:n.503C>T
NM_005859.4:c.38C>T NP_005850.1:p.Ala13Val
NM_005859.5:c.38C>T MANE Select NP_005850.1:p.Ala13Val
Search 100 bp 5'
Search 100 bp 3'