Canonical Allele Identifier: CA414587939
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

ClinVar Variation Id: 427154
ClinVar RCV Id: RCV000489087
dbSNP Id: rs1085307990

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130147520A>G , CM000685.2:g.130147520A>G GRCh38
NC_000023.10:g.129281495A>G , CM000685.1:g.129281495A>G GRCh37
NC_000023.9:g.129109176A>G NCBI36
NG_013217.1:g.23314T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287295.8:c.578T>C (AIFM1) MANE Select ENSP00000287295.3:p.Phe193Ser
ENST00000319908.8:c.578T>C (AIFM1) ENSP00000315122.4:p.Phe193Ser
ENST00000416073.7:c.572T>C (AIFM1) ENSP00000402535.3:p.Phe191Ser
ENST00000533719.2:n.370T>C (AIFM1)
ENST00000535724.6:c.578T>C (AIFM1) ENSP00000446113.2:p.Phe193Ser
ENST00000674546.1:c.578T>C (AIFM1) ENSP00000501950.1:p.Phe193Ser
ENST00000674555.1:c.*313T>C (AIFM1) ENSP00000502183.1:n.*313T>C
ENST00000674722.1:c.578T>C (AIFM1) ENSP00000501693.1:p.Phe193Ser
ENST00000674957.1:c.279T>C (AIFM1)
ENST00000674997.1:c.435T>C (AIFM1) ENSP00000502124.1:n.435T>C
ENST00000675037.1:c.578T>C (AIFM1) ENSP00000501724.1:p.Phe193Ser
ENST00000675050.1:c.566T>C (AIFM1) ENSP00000502606.1:p.Phe189Ser
ENST00000675092.1:c.578T>C (AIFM1) ENSP00000501772.1:p.Phe193Ser
ENST00000675111.1:n.503T>C (AIFM1)
ENST00000675240.1:c.578T>C (AIFM1) ENSP00000501907.1:p.Phe193Ser
ENST00000675427.1:c.578T>C (AIFM1) ENSP00000501880.1:p.Phe193Ser
ENST00000675774.1:c.*362T>C (AIFM1) ENSP00000502690.1:n.*362T>C
ENST00000675857.1:c.572T>C (AIFM1) ENSP00000502721.1:p.Phe191Ser
ENST00000676048.1:n.3700T>C (AIFM1)
ENST00000676144.1:c.353T>C (AIFM1)
ENST00000676229.1:c.566T>C (AIFM1) ENSP00000502184.1:p.Phe189Ser
ENST00000676328.1:c.578T>C (AIFM1) ENSP00000502068.1:p.Phe193Ser
ENST00000676436.1:c.572T>C (AIFM1) ENSP00000502669.1:p.Phe191Ser
ENST00000287295.7:c.578T>C (AIFM1) ENSP00000287295.3:p.Phe193Ser
ENST00000319908.7:c.566T>C (AIFM1) ENSP00000315122.3:p.Phe189Ser
ENST00000346424.6:c.107-10335T>C (AIFM1) ENSP00000316320.3:n.107-10335T>C
ENST00000416073.6:c.578T>C (AIFM1) ENSP00000402535.2:p.Phe193Ser
ENST00000527892.5:c.*303T>C (AIFM1) ENSP00000435955.1:n.*303T>C
ENST00000533719.1:n.281T>C (AIFM1)
ENST00000535724.5:c.578T>C (AIFM1) ENSP00000446113.2:p.Phe193Ser
NM_001130847.3:c.578T>C (AIFM1) NP_001124319.1:p.Phe193Ser
NM_004208.3:c.578T>C (AIFM1) NP_004199.1:p.Phe193Ser
NM_145812.2:c.566T>C (AIFM1) NP_665811.1:p.Phe189Ser
NM_145813.2:c.107-10335T>C (AIFM1) NP_665812.1:n.107-10335T>C
NR_132647.1:n.666T>C (AIFM1)
XM_017029963.2:c.30+30135A>G (RAB33A) XP_016885452.1:n.30+30135A>G
NM_004208.4:c.578T>C (AIFM1) MANE Select NP_004199.1:p.Phe193Ser
NM_001130847.4:c.578T>C (AIFM1) NP_001124319.1:p.Phe193Ser
NM_145812.3:c.566T>C (AIFM1) NP_665811.1:p.Phe189Ser
NR_132647.2:n.620T>C (AIFM1)