Canonical Allele Identifier: CA401214807
Gene: BIRC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223512G>C , CM000679.2:g.78223512G>C GRCh38
NC_000017.10:g.76219593G>C , CM000679.1:g.76219593G>C GRCh37
NC_000017.9:g.73731188G>C NCBI36
NG_029069.1:g.14317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.387G>C MANE Select ENSP00000324180.4:p.Glu129Asp
ENST00000301633.8:c.456G>C ENSP00000301633.3:p.Glu152Asp
ENST00000350051.7:c.387G>C ENSP00000324180.4:p.Glu129Asp
ENST00000374948.6:c.269G>C ENSP00000364086.1:p.Arg90Thr
ENST00000589892.1:n.403G>C
ENST00000590925.6:c.*189G>C ENSP00000467336.1:n.*189G>C
NM_001012270.1:c.269G>C NP_001012270.1:p.Arg90Thr
NM_001012271.1:c.456G>C NP_001012271.1:p.Glu152Asp
NM_001168.2:c.387G>C NP_001159.2:p.Glu129Asp
XR_243654.3:n.589G>C
XR_934452.1:n.658G>C
XR_243654.5:n.589G>C
XR_934452.3:n.658G>C
NM_001168.3:c.387G>C MANE Select NP_001159.2:p.Glu129Asp
NM_001012270.2:c.269G>C NP_001012270.1:p.Arg90Thr
NM_001012271.2:c.456G>C NP_001012271.1:p.Glu152Asp