Canonical Allele Identifier: CA2640134812

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224072-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224072T>G , CM000679.2:g.78224072T>G	GRCh38
NC_000017.10:g.76220153T>G , CM000679.1:g.76220153T>G	GRCh37
NC_000017.9:g.73731748T>G	NCBI36
NG_029069.1:g.14877T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*518T>G MANE Select	ENSP00000324180.4:n.*518T>G
ENST00000301633.8:c.*518T>G	ENSP00000301633.3:n.*518T>G
ENST00000350051.7:c.*518T>G	ENSP00000324180.4:n.*518T>G
ENST00000374948.6:c.*415T>G	ENSP00000364086.1:n.*415T>G
NM_001012270.1:c.*415T>G	NP_001012270.1:n.*415T>G
NM_001012271.1:c.*518T>G	NP_001012271.1:n.*518T>G
NM_001168.2:c.*518T>G	NP_001159.2:n.*518T>G
XR_243654.3:n.1149T>G
XR_934452.1:n.1218T>G
XR_243654.5:n.1149T>G
XR_934452.3:n.1218T>G
NM_001168.3:c.*518T>G MANE Select	NP_001159.2:n.*518T>G
NM_001012270.2:c.*415T>G	NP_001012270.1:n.*415T>G
NM_001012271.2:c.*518T>G	NP_001012271.1:n.*518T>G