Canonical Allele Identifier: CA401215011
Gene: BIRC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223536G>C , CM000679.2:g.78223536G>C GRCh38
NC_000017.10:g.76219617G>C , CM000679.1:g.76219617G>C GRCh37
NC_000017.9:g.73731212G>C NCBI36
NG_029069.1:g.14341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.411G>C MANE Select ENSP00000324180.4:p.Gln137His
ENST00000301633.8:c.480G>C ENSP00000301633.3:p.Gln160His
ENST00000350051.7:c.411G>C ENSP00000324180.4:p.Gln137His
ENST00000374948.6:c.293G>C ENSP00000364086.1:p.Ser98Thr
ENST00000589892.1:n.427G>C
ENST00000590925.6:c.*213G>C ENSP00000467336.1:n.*213G>C
NM_001012270.1:c.293G>C NP_001012270.1:p.Ser98Thr
NM_001012271.1:c.480G>C NP_001012271.1:p.Gln160His
NM_001168.2:c.411G>C NP_001159.2:p.Gln137His
XR_243654.3:n.613G>C
XR_934452.1:n.682G>C
XR_243654.5:n.613G>C
XR_934452.3:n.682G>C
NM_001168.3:c.411G>C MANE Select NP_001159.2:p.Gln137His
NM_001012270.2:c.293G>C NP_001012270.1:p.Ser98Thr
NM_001012271.2:c.480G>C NP_001012271.1:p.Gln160His