Canonical Allele Identifier: CA10588393
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 265539
dbSNP Id: rs886039610

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114639G>C , CM000667.2:g.140114639G>C GRCh38
NC_000005.9:g.139494224G>C , CM000667.1:g.139494224G>C GRCh37
NC_000005.8:g.139474408G>C NCBI36
NG_041813.1:g.5517G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.458G>C MANE Select ENSP00000332706.3:p.Arg153Pro
ENST00000651386.1:c.458G>C ENSP00000499133.1:p.Arg153Pro
ENST00000331327.4:c.458G>C ENSP00000332706.3:p.Arg153Pro
NM_005859.4:c.458G>C NP_005850.1:p.Arg153Pro
NM_005859.5:c.458G>C MANE Select NP_005850.1:p.Arg153Pro