Canonical Allele Identifier: CA449661587
Gene: AIF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31583882G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616105G>A , CM000668.2:g.31616105G>A GRCh38
NC_000006.11:g.31583882G>A , CM000668.1:g.31583882G>A GRCh37
NC_000006.10:g.31691861G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.156G>A MANE Select ENSP00000365227.3:p.Glu52=
ENST00000337917.11:c.198G>A ENSP00000338776.7:p.Glu66=
ENST00000376049.4:c.-7G>A ENSP00000365217.4:n.-7G>A
ENST00000376059.7:c.156G>A ENSP00000365227.3:p.Glu52=
ENST00000466820.1:n.573G>A
ENST00000497362.5:n.575G>A
NM_001623.3:c.156G>A NP_001614.3:p.Glu52=
NM_004847.3:c.-7G>A NP_004838.1:n.-7G>A
NM_032955.1:c.-7G>A NP_116573.1:n.-7G>A
XM_005248870.3:c.156G>A XP_005248927.1:p.Glu52=
XM_005248871.1:c.219G>A XP_005248928.1:p.Glu73=
NM_001318970.1:c.-7G>A NP_001305899.1:n.-7G>A
NM_001623.4:c.156G>A NP_001614.3:p.Glu52=
NM_032955.2:c.-7G>A NP_116573.1:n.-7G>A
XM_005248870.4:c.156G>A XP_005248927.1:p.Glu52=
XM_017010332.1:c.-7G>A XP_016865821.1:n.-7G>A
NM_001623.5:c.156G>A MANE Select NP_001614.3:p.Glu52=
NM_001318970.2:c.-7G>A NP_001305899.1:n.-7G>A
NM_032955.3:c.-7G>A NP_116573.1:n.-7G>A