Canonical Allele Identifier: CA361490610
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114548C>A , CM000667.2:g.140114548C>A GRCh38
NC_000005.9:g.139494133C>A , CM000667.1:g.139494133C>A GRCh37
NC_000005.8:g.139474317C>A NCBI36
NG_041813.1:g.5426C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.367C>A MANE Select ENSP00000332706.3:p.Gln123Lys
ENST00000651386.1:c.367C>A ENSP00000499133.1:p.Gln123Lys
ENST00000331327.4:c.367C>A ENSP00000332706.3:p.Gln123Lys
NM_005859.4:c.367C>A NP_005850.1:p.Gln123Lys
NM_005859.5:c.367C>A MANE Select NP_005850.1:p.Gln123Lys