Canonical Allele Identifier: CA2640134648

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78224028-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224028C>T , CM000679.2:g.78224028C>T	GRCh38
NC_000017.10:g.76220109C>T , CM000679.1:g.76220109C>T	GRCh37
NC_000017.9:g.73731704C>T	NCBI36
NG_029069.1:g.14833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*474C>T MANE Select	ENSP00000324180.4:n.*474C>T
ENST00000301633.8:c.*474C>T	ENSP00000301633.3:n.*474C>T
ENST00000350051.7:c.*474C>T	ENSP00000324180.4:n.*474C>T
ENST00000374948.6:c.*371C>T	ENSP00000364086.1:n.*371C>T
NM_001012270.1:c.*371C>T	NP_001012270.1:n.*371C>T
NM_001012271.1:c.*474C>T	NP_001012271.1:n.*474C>T
NM_001168.2:c.*474C>T	NP_001159.2:n.*474C>T
XR_243654.3:n.1105C>T
XR_934452.1:n.1174C>T
XR_243654.5:n.1105C>T
XR_934452.3:n.1174C>T
NM_001168.3:c.*474C>T MANE Select	NP_001159.2:n.*474C>T
NM_001012270.2:c.*371C>T	NP_001012270.1:n.*371C>T
NM_001012271.2:c.*474C>T	NP_001012271.1:n.*474C>T