Canonical Allele Identifier: CA502086174

Gene: BIRC5

Linked Data

• dbSNP Id: rs1342268485
• gnomAD v3: 17-78223877-A-G
• gnomAD v4: 17-78223877-A-G
• MyVariant Identifiers: chr17:g.76219958A>G (hg19) ; chr17:g.78223877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223877A>G , CM000679.2:g.78223877A>G	GRCh38
NC_000017.10:g.76219958A>G , CM000679.1:g.76219958A>G	GRCh37
NC_000017.9:g.73731553A>G	NCBI36
NG_029069.1:g.14682A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000350051.8:c.*323A>G MANE Select	ENSP00000324180.4:n.*323A>G
ENST00000301633.8:c.*323A>G	ENSP00000301633.3:n.*323A>G
ENST00000350051.7:c.*323A>G	ENSP00000324180.4:n.*323A>G
ENST00000374948.6:c.*220A>G	ENSP00000364086.1:n.*220A>G
NM_001012270.1:c.*220A>G	NP_001012270.1:n.*220A>G
NM_001012271.1:c.*323A>G	NP_001012271.1:n.*323A>G
NM_001168.2:c.*323A>G	NP_001159.2:n.*323A>G
XR_243654.3:n.954A>G
XR_934452.1:n.1023A>G
XR_243654.5:n.954A>G
XR_934452.3:n.1023A>G
NM_001168.3:c.*323A>G MANE Select	NP_001159.2:n.*323A>G
NM_001012270.2:c.*220A>G	NP_001012270.1:n.*220A>G
NM_001012271.2:c.*323A>G	NP_001012271.1:n.*323A>G