Canonical Allele Identifier: CA2640134896

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224143-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224143A>T , CM000679.2:g.78224143A>T	GRCh38
NC_000017.10:g.76220224A>T , CM000679.1:g.76220224A>T	GRCh37
NC_000017.9:g.73731819A>T	NCBI36
NG_029069.1:g.14948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*589A>T MANE Select	ENSP00000324180.4:n.*589A>T
ENST00000301633.8:c.*589A>T	ENSP00000301633.3:n.*589A>T
ENST00000350051.7:c.*589A>T	ENSP00000324180.4:n.*589A>T
ENST00000374948.6:c.*486A>T	ENSP00000364086.1:n.*486A>T
NM_001012270.1:c.*486A>T	NP_001012270.1:n.*486A>T
NM_001012271.1:c.*589A>T	NP_001012271.1:n.*589A>T
NM_001168.2:c.*589A>T	NP_001159.2:n.*589A>T
XR_243654.3:n.1220A>T
XR_934452.1:n.1289A>T
XR_243654.5:n.1220A>T
XR_934452.3:n.1289A>T
NM_001168.3:c.*589A>T MANE Select	NP_001159.2:n.*589A>T
NM_001012270.2:c.*486A>T	NP_001012270.1:n.*486A>T
NM_001012271.2:c.*589A>T	NP_001012271.1:n.*589A>T