Canonical Allele Identifier: CA361491131
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 560683
ClinVar RCV Id: RCV000678909
dbSNP Id: rs1561793336
MyVariant Identifiers: chr5:g.139494371T>C (hg19) chr5:g.140114786T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114786T>C , CM000667.2:g.140114786T>C GRCh38
NC_000005.9:g.139494371T>C , CM000667.1:g.139494371T>C GRCh37
NC_000005.8:g.139474555T>C NCBI36
NG_041813.1:g.5664T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.605T>C MANE Select ENSP00000332706.3:p.Leu202Pro
ENST00000651386.1:c.605T>C ENSP00000499133.1:p.Leu202Pro
ENST00000331327.4:c.605T>C ENSP00000332706.3:p.Leu202Pro
NM_005859.4:c.605T>C NP_005850.1:p.Leu202Pro
NM_005859.5:c.605T>C MANE Select NP_005850.1:p.Leu202Pro
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