Canonical Allele Identifier: CA361490860
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1313493
ClinVar RCV Id: RCV001763857
dbSNP Id: rs2126749118
MyVariant Identifiers: chr5:g.139494244A>G (hg19) chr5:g.140114659A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114659A>G , CM000667.2:g.140114659A>G GRCh38
NC_000005.9:g.139494244A>G , CM000667.1:g.139494244A>G GRCh37
NC_000005.8:g.139474428A>G NCBI36
NG_041813.1:g.5537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.478A>G MANE Select ENSP00000332706.3:p.Lys160Glu
ENST00000651386.1:c.478A>G ENSP00000499133.1:p.Lys160Glu
ENST00000331327.4:c.478A>G ENSP00000332706.3:p.Lys160Glu
NM_005859.4:c.478A>G NP_005850.1:p.Lys160Glu
NM_005859.5:c.478A>G MANE Select NP_005850.1:p.Lys160Glu
Search 100 bp 5'
Search 100 bp 3'