Canonical Allele Identifier: CA361490401
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114453T>G , CM000667.2:g.140114453T>G GRCh38
NC_000005.9:g.139494038T>G , CM000667.1:g.139494038T>G GRCh37
NC_000005.8:g.139474222T>G NCBI36
NG_041813.1:g.5331T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.272T>G MANE Select ENSP00000332706.3:p.Val91Gly
ENST00000505703.2:c.272T>G ENSP00000498560.1:p.Val91Gly
ENST00000651386.1:c.272T>G ENSP00000499133.1:p.Val91Gly
ENST00000331327.4:c.272T>G ENSP00000332706.3:p.Val91Gly
NM_005859.4:c.272T>G NP_005850.1:p.Val91Gly
NM_005859.5:c.272T>G MANE Select NP_005850.1:p.Val91Gly