Canonical Allele Identifier: CA401214573
Gene: BIRC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223491A>T , CM000679.2:g.78223491A>T GRCh38
NC_000017.10:g.76219572A>T , CM000679.1:g.76219572A>T GRCh37
NC_000017.9:g.73731167A>T NCBI36
NG_029069.1:g.14296A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.366A>T MANE Select ENSP00000324180.4:p.Lys122Asn
ENST00000301633.8:c.435A>T ENSP00000301633.3:p.Lys145Asn
ENST00000350051.7:c.366A>T ENSP00000324180.4:p.Lys122Asn
ENST00000374948.6:c.248A>T ENSP00000364086.1:p.Lys83Met
ENST00000589892.1:n.382A>T
ENST00000590925.6:c.*168A>T ENSP00000467336.1:n.*168A>T
NM_001012270.1:c.248A>T NP_001012270.1:p.Lys83Met
NM_001012271.1:c.435A>T NP_001012271.1:p.Lys145Asn
NM_001168.2:c.366A>T NP_001159.2:p.Lys122Asn
XR_243654.3:n.568A>T
XR_934452.1:n.637A>T
XR_243654.5:n.568A>T
XR_934452.3:n.637A>T
NM_001168.3:c.366A>T MANE Select NP_001159.2:p.Lys122Asn
NM_001012270.2:c.248A>T NP_001012270.1:p.Lys83Met
NM_001012271.2:c.435A>T NP_001012271.1:p.Lys145Asn