Canonical Allele Identifier: CA401214423

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223478-A-G
• MyVariant Identifiers: chr17:g.76219559A>G (hg19) ; chr17:g.78223478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223478A>G , CM000679.2:g.78223478A>G	GRCh38
NC_000017.10:g.76219559A>G , CM000679.1:g.76219559A>G	GRCh37
NC_000017.9:g.73731154A>G	NCBI36
NG_029069.1:g.14283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.353A>G MANE Select	ENSP00000324180.4:p.Asn118Ser
ENST00000301633.8:c.422A>G	ENSP00000301633.3:p.Asn141Ser
ENST00000350051.7:c.353A>G	ENSP00000324180.4:p.Asn118Ser
ENST00000374948.6:c.235A>G	ENSP00000364086.1:p.Thr79Ala
ENST00000589892.1:n.369A>G
ENST00000590925.6:c.*155A>G	ENSP00000467336.1:n.*155A>G
NM_001012270.1:c.235A>G	NP_001012270.1:p.Thr79Ala
NM_001012271.1:c.422A>G	NP_001012271.1:p.Asn141Ser
NM_001168.2:c.353A>G	NP_001159.2:p.Asn118Ser
XR_243654.3:n.555A>G
XR_934452.1:n.624A>G
XR_243654.5:n.555A>G
XR_934452.3:n.624A>G
NM_001168.3:c.353A>G MANE Select	NP_001159.2:p.Asn118Ser
NM_001012270.2:c.235A>G	NP_001012270.1:p.Thr79Ala
NM_001012271.2:c.422A>G	NP_001012271.1:p.Asn141Ser