Canonical Allele Identifier: CA361490466
Gene: PURA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114485C>G , CM000667.2:g.140114485C>G GRCh38
NC_000005.9:g.139494070C>G , CM000667.1:g.139494070C>G GRCh37
NC_000005.8:g.139474254C>G NCBI36
NG_041813.1:g.5363C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331327.5:c.304C>G MANE Select ENSP00000332706.3:p.Leu102Val
ENST00000505703.2:c.304C>G ENSP00000498560.1:p.Leu102Val
ENST00000651386.1:c.304C>G ENSP00000499133.1:p.Leu102Val
ENST00000331327.4:c.304C>G ENSP00000332706.3:p.Leu102Val
NM_005859.4:c.304C>G NP_005850.1:p.Leu102Val
NM_005859.5:c.304C>G MANE Select NP_005850.1:p.Leu102Val