Canonical Allele Identifier: CA2640134579

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224006-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224006C>A , CM000679.2:g.78224006C>A	GRCh38
NC_000017.10:g.76220087C>A , CM000679.1:g.76220087C>A	GRCh37
NC_000017.9:g.73731682C>A	NCBI36
NG_029069.1:g.14811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*452C>A MANE Select	ENSP00000324180.4:n.*452C>A
ENST00000301633.8:c.*452C>A	ENSP00000301633.3:n.*452C>A
ENST00000350051.7:c.*452C>A	ENSP00000324180.4:n.*452C>A
ENST00000374948.6:c.*349C>A	ENSP00000364086.1:n.*349C>A
NM_001012270.1:c.*349C>A	NP_001012270.1:n.*349C>A
NM_001012271.1:c.*452C>A	NP_001012271.1:n.*452C>A
NM_001168.2:c.*452C>A	NP_001159.2:n.*452C>A
XR_243654.3:n.1083C>A
XR_934452.1:n.1152C>A
XR_243654.5:n.1083C>A
XR_934452.3:n.1152C>A
NM_001168.3:c.*452C>A MANE Select	NP_001159.2:n.*452C>A
NM_001012270.2:c.*349C>A	NP_001012270.1:n.*349C>A
NM_001012271.2:c.*452C>A	NP_001012271.1:n.*452C>A