Canonical Allele Identifier: CA2640134822

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224077-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224077T>C , CM000679.2:g.78224077T>C	GRCh38
NC_000017.10:g.76220158T>C , CM000679.1:g.76220158T>C	GRCh37
NC_000017.9:g.73731753T>C	NCBI36
NG_029069.1:g.14882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*523T>C MANE Select	ENSP00000324180.4:n.*523T>C
ENST00000301633.8:c.*523T>C	ENSP00000301633.3:n.*523T>C
ENST00000350051.7:c.*523T>C	ENSP00000324180.4:n.*523T>C
ENST00000374948.6:c.*420T>C	ENSP00000364086.1:n.*420T>C
NM_001012270.1:c.*420T>C	NP_001012270.1:n.*420T>C
NM_001012271.1:c.*523T>C	NP_001012271.1:n.*523T>C
NM_001168.2:c.*523T>C	NP_001159.2:n.*523T>C
XR_243654.3:n.1154T>C
XR_934452.1:n.1223T>C
XR_243654.5:n.1154T>C
XR_934452.3:n.1223T>C
NM_001168.3:c.*523T>C MANE Select	NP_001159.2:n.*523T>C
NM_001012270.2:c.*420T>C	NP_001012270.1:n.*420T>C
NM_001012271.2:c.*523T>C	NP_001012271.1:n.*523T>C