Canonical Allele Identifier: CA8798644

Gene: BIRC5

Linked Data

• dbSNP Id: rs776613516
• ExAC: 17:76219647 G / A
• gnomAD v2: 17-76219647-G-A
• gnomAD v3: 17-78223566-G-A
• gnomAD v4: 17-78223566-G-A
• MyVariant Identifiers: chr17:g.76219647G>A (hg19) ; chr17:g.78223566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223566G>A , CM000679.2:g.78223566G>A	GRCh38
NC_000017.10:g.76219647G>A , CM000679.1:g.76219647G>A	GRCh37
NC_000017.9:g.73731242G>A	NCBI36
NG_029069.1:g.14371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*12G>A MANE Select	ENSP00000324180.4:n.*12G>A
ENST00000301633.8:c.*12G>A	ENSP00000301633.3:n.*12G>A
ENST00000350051.7:c.*12G>A	ENSP00000324180.4:n.*12G>A
ENST00000374948.6:c.323G>A	ENSP00000364086.1:p.Arg108Gln
ENST00000589892.1:n.457G>A
NM_001012270.1:c.323G>A	NP_001012270.1:p.Arg108Gln
NM_001012271.1:c.*12G>A	NP_001012271.1:n.*12G>A
NM_001168.2:c.*12G>A	NP_001159.2:n.*12G>A
XR_243654.3:n.643G>A
XR_934452.1:n.712G>A
XR_243654.5:n.643G>A
XR_934452.3:n.712G>A
NM_001168.3:c.*12G>A MANE Select	NP_001159.2:n.*12G>A
NM_001012270.2:c.323G>A	NP_001012270.1:p.Arg108Gln
NM_001012271.2:c.*12G>A	NP_001012271.1:n.*12G>A