Canonical Allele Identifier: CA199216
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 189318
ClinVar RCV Id: RCV000169738
dbSNP Id: rs786204834
MyVariant Identifiers: chr5:g.139494382A>T (hg19) chr5:g.140114797A>T (hg38)
PubMed: PMID:25342064 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114797A>T , CM000667.2:g.140114797A>T GRCh38
NC_000005.9:g.139494382A>T , CM000667.1:g.139494382A>T GRCh37
NC_000005.8:g.139474566A>T NCBI36
NG_041813.1:g.5675A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.616A>T MANE Select ENSP00000332706.3:p.Ile206Phe
ENST00000651386.1:c.616A>T ENSP00000499133.1:p.Ile206Phe
ENST00000331327.4:c.616A>T ENSP00000332706.3:p.Ile206Phe
NM_005859.4:c.616A>T NP_005850.1:p.Ile206Phe
NM_005859.5:c.616A>T MANE Select NP_005850.1:p.Ile206Phe
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