Canonical Allele Identifier: CA363326318

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583902T>A (hg19) ; chr6:g.31616125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616125T>A , CM000668.2:g.31616125T>A	GRCh38
NC_000006.11:g.31583902T>A , CM000668.1:g.31583902T>A	GRCh37
NC_000006.10:g.31691881T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.176T>A MANE Select	ENSP00000365227.3:p.Leu59His
ENST00000337917.11:c.218T>A	ENSP00000338776.7:p.Leu73His
ENST00000376049.4:c.14T>A	ENSP00000365217.4:p.Leu5His
ENST00000376059.7:c.176T>A	ENSP00000365227.3:p.Leu59His
ENST00000466820.1:n.593T>A
ENST00000497362.5:n.595T>A
NM_001623.3:c.176T>A	NP_001614.3:p.Leu59His
NM_004847.3:c.14T>A	NP_004838.1:p.Leu5His
NM_032955.1:c.14T>A	NP_116573.1:p.Leu5His
XM_005248870.3:c.176T>A	XP_005248927.1:p.Leu59His
XM_005248871.1:c.239T>A	XP_005248928.1:p.Leu80His
NM_001318970.1:c.14T>A	NP_001305899.1:p.Leu5His
NM_001623.4:c.176T>A	NP_001614.3:p.Leu59His
NM_032955.2:c.14T>A	NP_116573.1:p.Leu5His
XM_005248870.4:c.176T>A	XP_005248927.1:p.Leu59His
XM_017010332.1:c.14T>A	XP_016865821.1:p.Leu5His
NM_001623.5:c.176T>A MANE Select	NP_001614.3:p.Leu59His
NM_001318970.2:c.14T>A	NP_001305899.1:p.Leu5His
NM_032955.3:c.14T>A	NP_116573.1:p.Leu5His