Canonical Allele Identifier: CA401215463

Gene: BIRC5

Linked Data

• dbSNP Id: rs1377462147
• gnomAD v2: 17-76219673-C-G
• gnomAD v4: 17-78223592-C-G
• MyVariant Identifiers: chr17:g.76219673C>G (hg19) ; chr17:g.78223592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223592C>G , CM000679.2:g.78223592C>G	GRCh38
NC_000017.10:g.76219673C>G , CM000679.1:g.76219673C>G	GRCh37
NC_000017.9:g.73731268C>G	NCBI36
NG_029069.1:g.14397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*38C>G MANE Select	ENSP00000324180.4:n.*38C>G
ENST00000301633.8:c.*38C>G	ENSP00000301633.3:n.*38C>G
ENST00000350051.7:c.*38C>G	ENSP00000324180.4:n.*38C>G
ENST00000374948.6:c.349C>G	ENSP00000364086.1:p.His117Asp
ENST00000589892.1:n.483C>G
NM_001012270.1:c.349C>G	NP_001012270.1:p.His117Asp
NM_001012271.1:c.*38C>G	NP_001012271.1:n.*38C>G
NM_001168.2:c.*38C>G	NP_001159.2:n.*38C>G
XR_243654.3:n.669C>G
XR_934452.1:n.738C>G
XR_243654.5:n.669C>G
XR_934452.3:n.738C>G
NM_001168.3:c.*38C>G MANE Select	NP_001159.2:n.*38C>G
NM_001012270.2:c.349C>G	NP_001012270.1:p.His117Asp
NM_001012271.2:c.*38C>G	NP_001012271.1:n.*38C>G