Canonical Allele Identifier: CA446758563
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 589317
ClinVar RCV Id: RCV001393249 RCV002318736
dbSNP Id: rs1282359377
gnomAD v3: 5-140114286-T-C
gnomAD v4: 5-140114286-T-C
MyVariant Identifiers: chr5:g.139493871T>C (hg19) chr5:g.140114286T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114286T>C , CM000667.2:g.140114286T>C GRCh38
NC_000005.9:g.139493871T>C , CM000667.1:g.139493871T>C GRCh37
NC_000005.8:g.139474055T>C NCBI36
NG_041813.1:g.5164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.105T>C MANE Select ENSP00000332706.3:p.Gly35=
ENST00000505703.2:c.105T>C ENSP00000498560.1:p.Gly35=
ENST00000651386.1:c.105T>C ENSP00000499133.1:p.Gly35=
ENST00000331327.4:c.105T>C ENSP00000332706.3:p.Gly35=
ENST00000505703.1:n.570T>C
NM_005859.4:c.105T>C NP_005850.1:p.Gly35=
NM_005859.5:c.105T>C MANE Select NP_005850.1:p.Gly35=
Search 100 bp 5'
Search 100 bp 3'