Canonical Allele Identifier: CA294307305

Gene: BIRC5

Linked Data

• dbSNP Id: rs942011585
• gnomAD v3: 17-78223946-G-A
• gnomAD v4: 17-78223946-G-A
• MyVariant Identifiers: chr17:g.76220027G>A (hg19) ; chr17:g.78223946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223946G>A , CM000679.2:g.78223946G>A	GRCh38
NC_000017.10:g.76220027G>A , CM000679.1:g.76220027G>A	GRCh37
NC_000017.9:g.73731622G>A	NCBI36
NG_029069.1:g.14751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*392G>A MANE Select	ENSP00000324180.4:n.*392G>A
ENST00000301633.8:c.*392G>A	ENSP00000301633.3:n.*392G>A
ENST00000350051.7:c.*392G>A	ENSP00000324180.4:n.*392G>A
ENST00000374948.6:c.*289G>A	ENSP00000364086.1:n.*289G>A
NM_001012270.1:c.*289G>A	NP_001012270.1:n.*289G>A
NM_001012271.1:c.*392G>A	NP_001012271.1:n.*392G>A
NM_001168.2:c.*392G>A	NP_001159.2:n.*392G>A
XR_243654.3:n.1023G>A
XR_934452.1:n.1092G>A
XR_243654.5:n.1023G>A
XR_934452.3:n.1092G>A
NM_001168.3:c.*392G>A MANE Select	NP_001159.2:n.*392G>A
NM_001012270.2:c.*289G>A	NP_001012270.1:n.*289G>A
NM_001012271.2:c.*392G>A	NP_001012271.1:n.*392G>A