Canonical Allele Identifier: CA361490402
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.272T>C MANE Select ENSP00000332706.3:p.Val91Ala
ENST00000505703.2:c.272T>C ENSP00000498560.1:p.Val91Ala
ENST00000651386.1:c.272T>C ENSP00000499133.1:p.Val91Ala
ENST00000331327.4:c.272T>C ENSP00000332706.3:p.Val91Ala
NM_005859.4:c.272T>C NP_005850.1:p.Val91Ala
NM_005859.5:c.272T>C MANE Select NP_005850.1:p.Val91Ala