Canonical Allele Identifier: CA2640134683

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224038-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224038C>G , CM000679.2:g.78224038C>G	GRCh38
NC_000017.10:g.76220119C>G , CM000679.1:g.76220119C>G	GRCh37
NC_000017.9:g.73731714C>G	NCBI36
NG_029069.1:g.14843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*484C>G MANE Select	ENSP00000324180.4:n.*484C>G
ENST00000301633.8:c.*484C>G	ENSP00000301633.3:n.*484C>G
ENST00000350051.7:c.*484C>G	ENSP00000324180.4:n.*484C>G
ENST00000374948.6:c.*381C>G	ENSP00000364086.1:n.*381C>G
NM_001012270.1:c.*381C>G	NP_001012270.1:n.*381C>G
NM_001012271.1:c.*484C>G	NP_001012271.1:n.*484C>G
NM_001168.2:c.*484C>G	NP_001159.2:n.*484C>G
XR_243654.3:n.1115C>G
XR_934452.1:n.1184C>G
XR_243654.5:n.1115C>G
XR_934452.3:n.1184C>G
NM_001168.3:c.*484C>G MANE Select	NP_001159.2:n.*484C>G
NM_001012270.2:c.*381C>G	NP_001012270.1:n.*381C>G
NM_001012271.2:c.*484C>G	NP_001012271.1:n.*484C>G