Canonical Allele Identifier: CA361490469
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114486T>A , CM000667.2:g.140114486T>A GRCh38
NC_000005.9:g.139494071T>A , CM000667.1:g.139494071T>A GRCh37
NC_000005.8:g.139474255T>A NCBI36
NG_041813.1:g.5364T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.305T>A MANE Select ENSP00000332706.3:p.Leu102His
ENST00000505703.2:c.305T>A ENSP00000498560.1:p.Leu102His
ENST00000651386.1:c.305T>A ENSP00000499133.1:p.Leu102His
ENST00000331327.4:c.305T>A ENSP00000332706.3:p.Leu102His
NM_005859.4:c.305T>A NP_005850.1:p.Leu102His
NM_005859.5:c.305T>A MANE Select NP_005850.1:p.Leu102His