Canonical Allele Identifier: CA361490760
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 1407682
ClinVar RCV Id: RCV001909321
dbSNP Id: rs1763047012
MyVariant Identifiers: chr5:g.139494202G>A (hg19) chr5:g.140114617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114617G>A , CM000667.2:g.140114617G>A GRCh38
NC_000005.9:g.139494202G>A , CM000667.1:g.139494202G>A GRCh37
NC_000005.8:g.139474386G>A NCBI36
NG_041813.1:g.5495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.436G>A MANE Select ENSP00000332706.3:p.Glu146Lys
ENST00000651386.1:c.436G>A ENSP00000499133.1:p.Glu146Lys
ENST00000331327.4:c.436G>A ENSP00000332706.3:p.Glu146Lys
NM_005859.4:c.436G>A NP_005850.1:p.Glu146Lys
NM_005859.5:c.436G>A MANE Select NP_005850.1:p.Glu146Lys
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