Canonical Allele Identifier: CA2640134903

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224147-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224147C>A , CM000679.2:g.78224147C>A	GRCh38
NC_000017.10:g.76220228C>A , CM000679.1:g.76220228C>A	GRCh37
NC_000017.9:g.73731823C>A	NCBI36
NG_029069.1:g.14952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*593C>A MANE Select	ENSP00000324180.4:n.*593C>A
ENST00000301633.8:c.*593C>A	ENSP00000301633.3:n.*593C>A
ENST00000350051.7:c.*593C>A	ENSP00000324180.4:n.*593C>A
ENST00000374948.6:c.*490C>A	ENSP00000364086.1:n.*490C>A
NM_001012270.1:c.*490C>A	NP_001012270.1:n.*490C>A
NM_001012271.1:c.*593C>A	NP_001012271.1:n.*593C>A
NM_001168.2:c.*593C>A	NP_001159.2:n.*593C>A
XR_243654.3:n.1224C>A
XR_934452.1:n.1293C>A
XR_243654.5:n.1224C>A
XR_934452.3:n.1293C>A
NM_001168.3:c.*593C>A MANE Select	NP_001159.2:n.*593C>A
NM_001012270.2:c.*490C>A	NP_001012270.1:n.*490C>A
NM_001012271.2:c.*593C>A	NP_001012271.1:n.*593C>A