Canonical Allele Identifier: CA8798641

Gene: BIRC5

Linked Data

• dbSNP Id: rs775321079
• ExAC: 17:76219631 A / G
• gnomAD v4: 17-78223550-A-G
• MyVariant Identifiers: chr17:g.76219631A>G (hg19) ; chr17:g.78223550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223550A>G , CM000679.2:g.78223550A>G	GRCh38
NC_000017.10:g.76219631A>G , CM000679.1:g.76219631A>G	GRCh37
NC_000017.9:g.73731226A>G	NCBI36
NG_029069.1:g.14355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.425A>G MANE Select	ENSP00000324180.4:p.Asp142Gly
ENST00000301633.8:c.494A>G	ENSP00000301633.3:p.Asp165Gly
ENST00000350051.7:c.425A>G	ENSP00000324180.4:p.Asp142Gly
ENST00000374948.6:c.307A>G	ENSP00000364086.1:p.Ile103Val
ENST00000589892.1:n.441A>G
ENST00000590925.6:c.*227A>G	ENSP00000467336.1:n.*227A>G
NM_001012270.1:c.307A>G	NP_001012270.1:p.Ile103Val
NM_001012271.1:c.494A>G	NP_001012271.1:p.Asp165Gly
NM_001168.2:c.425A>G	NP_001159.2:p.Asp142Gly
XR_243654.3:n.627A>G
XR_934452.1:n.696A>G
XR_243654.5:n.627A>G
XR_934452.3:n.696A>G
NM_001168.3:c.425A>G MANE Select	NP_001159.2:p.Asp142Gly
NM_001012270.2:c.307A>G	NP_001012270.1:p.Ile103Val
NM_001012271.2:c.494A>G	NP_001012271.1:p.Asp165Gly