Canonical Allele Identifier: CA3437456
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 772318
ClinVar RCV Id: RCV000951843
dbSNP Id: rs777864550
ExAC: 5:139494153 G / C
gnomAD v2: 5-139494153-G-C
gnomAD v3: 5-140114568-G-C
gnomAD v4: 5-140114568-G-C
MyVariant Identifiers: chr5:g.139494153G>C (hg19) chr5:g.140114568G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114568G>C , CM000667.2:g.140114568G>C GRCh38
NC_000005.9:g.139494153G>C , CM000667.1:g.139494153G>C GRCh37
NC_000005.8:g.139474337G>C NCBI36
NG_041813.1:g.5446G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.387G>C MANE Select ENSP00000332706.3:p.Pro129=
ENST00000651386.1:c.387G>C ENSP00000499133.1:p.Pro129=
ENST00000331327.4:c.387G>C ENSP00000332706.3:p.Pro129=
NM_005859.4:c.387G>C NP_005850.1:p.Pro129=
NM_005859.5:c.387G>C MANE Select NP_005850.1:p.Pro129=
Search 100 bp 5'
Search 100 bp 3'