Canonical Allele Identifier: CA502087032

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076532305
• gnomAD v3: 17-78223970-C-G
• gnomAD v4: 17-78223970-C-G
• MyVariant Identifiers: chr17:g.76220051C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223970C>G , CM000679.2:g.78223970C>G	GRCh38
NC_000017.10:g.76220051C>G , CM000679.1:g.76220051C>G	GRCh37
NC_000017.9:g.73731646C>G	NCBI36
NG_029069.1:g.14775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*416C>G MANE Select	ENSP00000324180.4:n.*416C>G
ENST00000301633.8:c.*416C>G	ENSP00000301633.3:n.*416C>G
ENST00000350051.7:c.*416C>G	ENSP00000324180.4:n.*416C>G
ENST00000374948.6:c.*313C>G	ENSP00000364086.1:n.*313C>G
NM_001012270.1:c.*313C>G	NP_001012270.1:n.*313C>G
NM_001012271.1:c.*416C>G	NP_001012271.1:n.*416C>G
NM_001168.2:c.*416C>G	NP_001159.2:n.*416C>G
XR_243654.3:n.1047C>G
XR_934452.1:n.1116C>G
XR_243654.5:n.1047C>G
XR_934452.3:n.1116C>G
NM_001168.3:c.*416C>G MANE Select	NP_001159.2:n.*416C>G
NM_001012270.2:c.*313C>G	NP_001012270.1:n.*313C>G
NM_001012271.2:c.*416C>G	NP_001012271.1:n.*416C>G