Canonical Allele Identifier: CA363326178
Gene: AIF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31616113T>G , CM000668.2:g.31616113T>G GRCh38
NC_000006.11:g.31583890T>G , CM000668.1:g.31583890T>G GRCh37
NC_000006.10:g.31691869T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376059.8:c.164T>G MANE Select ENSP00000365227.3:p.Met55Arg
ENST00000337917.11:c.206T>G ENSP00000338776.7:p.Met69Arg
ENST00000376049.4:c.2T>G ENSP00000365217.4:p.Met1Arg
ENST00000376059.7:c.164T>G ENSP00000365227.3:p.Met55Arg
ENST00000466820.1:n.581T>G
ENST00000497362.5:n.583T>G
NM_001623.3:c.164T>G NP_001614.3:p.Met55Arg
NM_004847.3:c.2T>G NP_004838.1:p.Met1Arg
NM_032955.1:c.2T>G NP_116573.1:p.Met1Arg
XM_005248870.3:c.164T>G XP_005248927.1:p.Met55Arg
XM_005248871.1:c.227T>G XP_005248928.1:p.Met76Arg
NM_001318970.1:c.2T>G NP_001305899.1:p.Met1Arg
NM_001623.4:c.164T>G NP_001614.3:p.Met55Arg
NM_032955.2:c.2T>G NP_116573.1:p.Met1Arg
XM_005248870.4:c.164T>G XP_005248927.1:p.Met55Arg
XM_017010332.1:c.2T>G XP_016865821.1:p.Met1Arg
NM_001623.5:c.164T>G MANE Select NP_001614.3:p.Met55Arg
NM_001318970.2:c.2T>G NP_001305899.1:p.Met1Arg
NM_032955.3:c.2T>G NP_116573.1:p.Met1Arg