Canonical Allele Identifier: CA2640134629

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224021-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224021T>C , CM000679.2:g.78224021T>C	GRCh38
NC_000017.10:g.76220102T>C , CM000679.1:g.76220102T>C	GRCh37
NC_000017.9:g.73731697T>C	NCBI36
NG_029069.1:g.14826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*467T>C MANE Select	ENSP00000324180.4:n.*467T>C
ENST00000301633.8:c.*467T>C	ENSP00000301633.3:n.*467T>C
ENST00000350051.7:c.*467T>C	ENSP00000324180.4:n.*467T>C
ENST00000374948.6:c.*364T>C	ENSP00000364086.1:n.*364T>C
NM_001012270.1:c.*364T>C	NP_001012270.1:n.*364T>C
NM_001012271.1:c.*467T>C	NP_001012271.1:n.*467T>C
NM_001168.2:c.*467T>C	NP_001159.2:n.*467T>C
XR_243654.3:n.1098T>C
XR_934452.1:n.1167T>C
XR_243654.5:n.1098T>C
XR_934452.3:n.1167T>C
NM_001168.3:c.*467T>C MANE Select	NP_001159.2:n.*467T>C
NM_001012270.2:c.*364T>C	NP_001012270.1:n.*364T>C
NM_001012271.2:c.*467T>C	NP_001012271.1:n.*467T>C