Canonical Allele Identifier: CA446831013
Gene: PURA HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.139494330T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114745T>A , CM000667.2:g.140114745T>A GRCh38
NC_000005.9:g.139494330T>A , CM000667.1:g.139494330T>A GRCh37
NC_000005.8:g.139474514T>A NCBI36
NG_041813.1:g.5623T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.564T>A MANE Select ENSP00000332706.3:p.Ile188=
ENST00000651386.1:c.564T>A ENSP00000499133.1:p.Ile188=
ENST00000331327.4:c.564T>A ENSP00000332706.3:p.Ile188=
NM_005859.4:c.564T>A NP_005850.1:p.Ile188=
NM_005859.5:c.564T>A MANE Select NP_005850.1:p.Ile188=