Canonical Allele Identifier: CA361490394
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114450A>T , CM000667.2:g.140114450A>T GRCh38
NC_000005.9:g.139494035A>T , CM000667.1:g.139494035A>T GRCh37
NC_000005.8:g.139474219A>T NCBI36
NG_041813.1:g.5328A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.269A>T MANE Select ENSP00000332706.3:p.Glu90Val
ENST00000505703.2:c.269A>T ENSP00000498560.1:p.Glu90Val
ENST00000651386.1:c.269A>T ENSP00000499133.1:p.Glu90Val
ENST00000331327.4:c.269A>T ENSP00000332706.3:p.Glu90Val
NM_005859.4:c.269A>T NP_005850.1:p.Glu90Val
NM_005859.5:c.269A>T MANE Select NP_005850.1:p.Glu90Val