Canonical Allele Identifier: CA446830741
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 772377
ClinVar RCV Id: RCV000951913
dbSNP Id: rs1581036621
MyVariant Identifiers: chr5:g.139494492G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114907G>C , CM000667.2:g.140114907G>C GRCh38
NC_000005.9:g.139494492G>C , CM000667.1:g.139494492G>C GRCh37
NC_000005.8:g.139474676G>C NCBI36
NG_041813.1:g.5785G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.726G>C MANE Select ENSP00000332706.3:p.Val242=
ENST00000651386.1:c.726G>C ENSP00000499133.1:p.Val242=
ENST00000331327.4:c.726G>C ENSP00000332706.3:p.Val242=
NM_005859.4:c.726G>C NP_005850.1:p.Val242=
NM_005859.5:c.726G>C MANE Select NP_005850.1:p.Val242=