Canonical Allele Identifier: CA401214354
Gene: BIRC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223468A>G , CM000679.2:g.78223468A>G GRCh38
NC_000017.10:g.76219549A>G , CM000679.1:g.76219549A>G GRCh37
NC_000017.9:g.73731144A>G NCBI36
NG_029069.1:g.14273A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.343A>G MANE Select ENSP00000324180.4:p.Lys115Glu
ENST00000301633.8:c.412A>G ENSP00000301633.3:p.Lys138Glu
ENST00000350051.7:c.343A>G ENSP00000324180.4:p.Lys115Glu
ENST00000374948.6:c.225A>G ENSP00000364086.1:p.Gln75=
ENST00000589892.1:n.359A>G
ENST00000590925.6:c.*145A>G ENSP00000467336.1:n.*145A>G
NM_001012270.1:c.225A>G NP_001012270.1:p.Gln75=
NM_001012271.1:c.412A>G NP_001012271.1:p.Lys138Glu
NM_001168.2:c.343A>G NP_001159.2:p.Lys115Glu
XR_243654.3:n.545A>G
XR_934452.1:n.614A>G
XR_243654.5:n.545A>G
XR_934452.3:n.614A>G
NM_001168.3:c.343A>G MANE Select NP_001159.2:p.Lys115Glu
NM_001012270.2:c.225A>G NP_001012270.1:p.Gln75=
NM_001012271.2:c.412A>G NP_001012271.1:p.Lys138Glu