Canonical Allele Identifier: CA363326458

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583917A>C (hg19) ; chr6:g.31616140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616140A>C , CM000668.2:g.31616140A>C	GRCh38
NC_000006.11:g.31583917A>C , CM000668.1:g.31583917A>C	GRCh37
NC_000006.10:g.31691896A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.191A>C MANE Select	ENSP00000365227.3:p.Asp64Ala
ENST00000337917.11:c.233A>C	ENSP00000338776.7:p.Asp78Ala
ENST00000376049.4:c.29A>C	ENSP00000365217.4:p.Asp10Ala
ENST00000376059.7:c.191A>C	ENSP00000365227.3:p.Asp64Ala
ENST00000466820.1:n.608A>C
ENST00000497362.5:n.610A>C
NM_001623.3:c.191A>C	NP_001614.3:p.Asp64Ala
NM_004847.3:c.29A>C	NP_004838.1:p.Asp10Ala
NM_032955.1:c.29A>C	NP_116573.1:p.Asp10Ala
XM_005248870.3:c.191A>C	XP_005248927.1:p.Asp64Ala
XM_005248871.1:c.254A>C	XP_005248928.1:p.Asp85Ala
NM_001318970.1:c.29A>C	NP_001305899.1:p.Asp10Ala
NM_001623.4:c.191A>C	NP_001614.3:p.Asp64Ala
NM_032955.2:c.29A>C	NP_116573.1:p.Asp10Ala
XM_005248870.4:c.191A>C	XP_005248927.1:p.Asp64Ala
XM_017010332.1:c.29A>C	XP_016865821.1:p.Asp10Ala
NM_001623.5:c.191A>C MANE Select	NP_001614.3:p.Asp64Ala
NM_001318970.2:c.29A>C	NP_001305899.1:p.Asp10Ala
NM_032955.3:c.29A>C	NP_116573.1:p.Asp10Ala