Canonical Allele Identifier: CA361491410
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114909T>G , CM000667.2:g.140114909T>G GRCh38
NC_000005.9:g.139494494T>G , CM000667.1:g.139494494T>G GRCh37
NC_000005.8:g.139474678T>G NCBI36
NG_041813.1:g.5787T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.728T>G MANE Select ENSP00000332706.3:p.Phe243Cys
ENST00000651386.1:c.728T>G ENSP00000499133.1:p.Phe243Cys
ENST00000331327.4:c.728T>G ENSP00000332706.3:p.Phe243Cys
NM_005859.4:c.728T>G NP_005850.1:p.Phe243Cys
NM_005859.5:c.728T>G MANE Select NP_005850.1:p.Phe243Cys