Canonical Allele Identifier: CA294307192

Gene: BIRC5

Linked Data

• dbSNP Id: rs1047418031
• gnomAD v2: 17-76219849-G-A
• gnomAD v4: 17-78223768-G-A
• MyVariant Identifiers: chr17:g.76219849G>A (hg19) ; chr17:g.78223768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223768G>A , CM000679.2:g.78223768G>A	GRCh38
NC_000017.10:g.76219849G>A , CM000679.1:g.76219849G>A	GRCh37
NC_000017.9:g.73731444G>A	NCBI36
NG_029069.1:g.14573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*214G>A MANE Select	ENSP00000324180.4:n.*214G>A
ENST00000301633.8:c.*214G>A	ENSP00000301633.3:n.*214G>A
ENST00000350051.7:c.*214G>A	ENSP00000324180.4:n.*214G>A
ENST00000374948.6:c.*111G>A	ENSP00000364086.1:n.*111G>A
ENST00000589892.1:n.659G>A
NM_001012270.1:c.*111G>A	NP_001012270.1:n.*111G>A
NM_001012271.1:c.*214G>A	NP_001012271.1:n.*214G>A
NM_001168.2:c.*214G>A	NP_001159.2:n.*214G>A
XR_243654.3:n.845G>A
XR_934452.1:n.914G>A
XR_243654.5:n.845G>A
XR_934452.3:n.914G>A
NM_001168.3:c.*214G>A MANE Select	NP_001159.2:n.*214G>A
NM_001012270.2:c.*111G>A	NP_001012270.1:n.*111G>A
NM_001012271.2:c.*214G>A	NP_001012271.1:n.*214G>A