Canonical Allele Identifier: CA363326359

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583906T>A (hg19) ; chr6:g.31616129T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616129T>A , CM000668.2:g.31616129T>A	GRCh38
NC_000006.11:g.31583906T>A , CM000668.1:g.31583906T>A	GRCh37
NC_000006.10:g.31691885T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.180T>A MANE Select	ENSP00000365227.3:p.Asn60Lys
ENST00000337917.11:c.222T>A	ENSP00000338776.7:p.Asn74Lys
ENST00000376049.4:c.18T>A	ENSP00000365217.4:p.Asn6Lys
ENST00000376059.7:c.180T>A	ENSP00000365227.3:p.Asn60Lys
ENST00000466820.1:n.597T>A
ENST00000497362.5:n.599T>A
NM_001623.3:c.180T>A	NP_001614.3:p.Asn60Lys
NM_004847.3:c.18T>A	NP_004838.1:p.Asn6Lys
NM_032955.1:c.18T>A	NP_116573.1:p.Asn6Lys
XM_005248870.3:c.180T>A	XP_005248927.1:p.Asn60Lys
XM_005248871.1:c.243T>A	XP_005248928.1:p.Asn81Lys
NM_001318970.1:c.18T>A	NP_001305899.1:p.Asn6Lys
NM_001623.4:c.180T>A	NP_001614.3:p.Asn60Lys
NM_032955.2:c.18T>A	NP_116573.1:p.Asn6Lys
XM_005248870.4:c.180T>A	XP_005248927.1:p.Asn60Lys
XM_017010332.1:c.18T>A	XP_016865821.1:p.Asn6Lys
NM_001623.5:c.180T>A MANE Select	NP_001614.3:p.Asn60Lys
NM_001318970.2:c.18T>A	NP_001305899.1:p.Asn6Lys
NM_032955.3:c.18T>A	NP_116573.1:p.Asn6Lys