Canonical Allele Identifier: CA361491213
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 635405
ClinVar RCV Id: RCV000786859 RCV000995624
dbSNP Id: rs1581036558
MyVariant Identifiers: chr5:g.139494406G>T (hg19) chr5:g.140114821G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114821G>T , CM000667.2:g.140114821G>T GRCh38
NC_000005.9:g.139494406G>T , CM000667.1:g.139494406G>T GRCh37
NC_000005.8:g.139474590G>T NCBI36
NG_041813.1:g.5699G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.640G>T MANE Select ENSP00000332706.3:p.Glu214Ter
ENST00000651386.1:c.640G>T ENSP00000499133.1:p.Glu214Ter
ENST00000331327.4:c.640G>T ENSP00000332706.3:p.Glu214Ter
NM_005859.4:c.640G>T NP_005850.1:p.Glu214Ter
NM_005859.5:c.640G>T MANE Select NP_005850.1:p.Glu214Ter
Search 100 bp 5'
Search 100 bp 3'