Canonical Allele Identifier: CA361490725
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114600-G-A
MyVariant Identifiers: chr5:g.139494185G>A (hg19) chr5:g.140114600G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114600G>A , CM000667.2:g.140114600G>A GRCh38
NC_000005.9:g.139494185G>A , CM000667.1:g.139494185G>A GRCh37
NC_000005.8:g.139474369G>A NCBI36
NG_041813.1:g.5478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.419G>A MANE Select ENSP00000332706.3:p.Arg140His
ENST00000651386.1:c.419G>A ENSP00000499133.1:p.Arg140His
ENST00000331327.4:c.419G>A ENSP00000332706.3:p.Arg140His
NM_005859.4:c.419G>A NP_005850.1:p.Arg140His
NM_005859.5:c.419G>A MANE Select NP_005850.1:p.Arg140His
Search 100 bp 5'
Search 100 bp 3'