Canonical Allele Identifier: CA502087056

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223973-G-A
• MyVariant Identifiers: chr17:g.76220054G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223973G>A , CM000679.2:g.78223973G>A	GRCh38
NC_000017.10:g.76220054G>A , CM000679.1:g.76220054G>A	GRCh37
NC_000017.9:g.73731649G>A	NCBI36
NG_029069.1:g.14778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*419G>A MANE Select	ENSP00000324180.4:n.*419G>A
ENST00000301633.8:c.*419G>A	ENSP00000301633.3:n.*419G>A
ENST00000350051.7:c.*419G>A	ENSP00000324180.4:n.*419G>A
ENST00000374948.6:c.*316G>A	ENSP00000364086.1:n.*316G>A
NM_001012270.1:c.*316G>A	NP_001012270.1:n.*316G>A
NM_001012271.1:c.*419G>A	NP_001012271.1:n.*419G>A
NM_001168.2:c.*419G>A	NP_001159.2:n.*419G>A
XR_243654.3:n.1050G>A
XR_934452.1:n.1119G>A
XR_243654.5:n.1050G>A
XR_934452.3:n.1119G>A
NM_001168.3:c.*419G>A MANE Select	NP_001159.2:n.*419G>A
NM_001012270.2:c.*316G>A	NP_001012270.1:n.*316G>A
NM_001012271.2:c.*419G>A	NP_001012271.1:n.*419G>A