Canonical Allele Identifier: CA502085055

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223784-C-G
• MyVariant Identifiers: chr17:g.76219865C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223784C>G , CM000679.2:g.78223784C>G	GRCh38
NC_000017.10:g.76219865C>G , CM000679.1:g.76219865C>G	GRCh37
NC_000017.9:g.73731460C>G	NCBI36
NG_029069.1:g.14589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*230C>G MANE Select	ENSP00000324180.4:n.*230C>G
ENST00000301633.8:c.*230C>G	ENSP00000301633.3:n.*230C>G
ENST00000350051.7:c.*230C>G	ENSP00000324180.4:n.*230C>G
ENST00000374948.6:c.*127C>G	ENSP00000364086.1:n.*127C>G
ENST00000589892.1:n.675C>G
NM_001012270.1:c.*127C>G	NP_001012270.1:n.*127C>G
NM_001012271.1:c.*230C>G	NP_001012271.1:n.*230C>G
NM_001168.2:c.*230C>G	NP_001159.2:n.*230C>G
XR_243654.3:n.861C>G
XR_934452.1:n.930C>G
XR_243654.5:n.861C>G
XR_934452.3:n.930C>G
NM_001168.3:c.*230C>G MANE Select	NP_001159.2:n.*230C>G
NM_001012270.2:c.*127C>G	NP_001012270.1:n.*127C>G
NM_001012271.2:c.*230C>G	NP_001012271.1:n.*230C>G