Canonical Allele Identifier: CA2458294431
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130137108T= , CM000685.2:g.130137108T= GRCh38
NC_000023.10:g.129271083T= , CM000685.1:g.129271083T= GRCh37
NC_000023.9:g.129098764T= NCBI36
NG_013217.1:g.33726A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.1045A= (AIFM1) MANE Select ENSP00000287295.3:p.Ser349=
ENST00000319908.8:c.1042A= (AIFM1) ENSP00000315122.4:p.Ser348=
ENST00000416073.7:c.1039A= (AIFM1) ENSP00000402535.3:p.Ser347=
ENST00000533719.2:n.837A= (AIFM1)
ENST00000535724.6:c.*273A= (AIFM1) ENSP00000446113.2:n.*273A=
ENST00000674546.1:c.1045A= (AIFM1) ENSP00000501950.1:p.Ser349=
ENST00000674555.1:c.*780A= (AIFM1) ENSP00000502183.1:n.*780A=
ENST00000674601.1:c.33A= (AIFM1)
ENST00000674722.1:c.*213A= (AIFM1) ENSP00000501693.1:n.*213A=
ENST00000674957.1:c.746A= (AIFM1)
ENST00000674997.1:c.902A= (AIFM1) ENSP00000502124.1:n.902A=
ENST00000675015.1:n.927A= (AIFM1)
ENST00000675037.1:c.1045A= (AIFM1) ENSP00000501724.1:p.Ser349=
ENST00000675050.1:c.1033A= (AIFM1) ENSP00000502606.1:p.Ser345=
ENST00000675092.1:c.1045A= (AIFM1) ENSP00000501772.1:p.Ser349=
ENST00000675111.1:n.970A= (AIFM1)
ENST00000675240.1:c.1045A= (AIFM1) ENSP00000501907.1:p.Ser349=
ENST00000675427.1:c.1045A= (AIFM1) ENSP00000501880.1:p.Ser349=
ENST00000675857.1:c.1039A= (AIFM1) ENSP00000502721.1:p.Ser347=
ENST00000676048.1:n.4167A= (AIFM1)
ENST00000676144.1:c.820A= (AIFM1)
ENST00000676229.1:c.1033A= (AIFM1) ENSP00000502184.1:p.Ser345=
ENST00000676328.1:c.1042A= (AIFM1) ENSP00000502068.1:p.Ser348=
ENST00000676436.1:c.1033A= (AIFM1) ENSP00000502669.1:p.Ser345=
ENST00000287295.7:c.1045A= (AIFM1) ENSP00000287295.3:p.Ser349=
ENST00000319908.7:c.1033A= (AIFM1) ENSP00000315122.3:p.Ser345=
ENST00000346424.6:c.184A= (AIFM1) ENSP00000316320.3:p.Ser62=
ENST00000416073.6:c.*273A= (AIFM1) ENSP00000402535.2:n.*273A=
ENST00000460436.6:c.28A= (AIFM1) ENSP00000431222.1:p.Ser10=
ENST00000527892.5:c.*973A= (AIFM1) ENSP00000435955.1:n.*973A=
ENST00000533719.1:n.748A= (AIFM1)
ENST00000535724.5:c.*273A= (AIFM1) ENSP00000446113.2:n.*273A=
NM_001130846.2:c.-12A= (AIFM1) NP_001124318.1:n.-12A=
NM_001130846.3:c.28A= (AIFM1) NP_001124318.2:p.Ser10=
NM_001130847.3:c.*273A= (AIFM1) NP_001124319.1:n.*273A=
NM_004208.3:c.1045A= (AIFM1) NP_004199.1:p.Ser349=
NM_145812.2:c.1033A= (AIFM1) NP_665811.1:p.Ser345=
NM_145813.2:c.184A= (AIFM1) NP_665812.1:p.Ser62=
NR_132647.1:n.1336A= (AIFM1)
XM_017029963.2:c.30+19723T= (RAB33A) XP_016885452.1:n.30+19723T=
NM_004208.4:c.1045A= (AIFM1) MANE Select NP_004199.1:p.Ser349=
NM_001130846.4:c.28A= (AIFM1) NP_001124318.2:p.Ser10=
NM_001130847.4:c.*273A= (AIFM1) NP_001124319.1:n.*273A=
NM_145812.3:c.1033A= (AIFM1) NP_665811.1:p.Ser345=
NR_132647.2:n.1290A= (AIFM1)