Canonical Allele Identifier: CA414579697

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130137131-C-T
• MyVariant Identifiers: chrX:g.129271106C>T (hg19) ; chrX:g.130137131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130137131C>T , CM000685.2:g.130137131C>T	GRCh38
NC_000023.10:g.129271106C>T , CM000685.1:g.129271106C>T	GRCh37
NC_000023.9:g.129098787C>T	NCBI36
NG_013217.1:g.33703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.1022G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Gly341Glu
ENST00000319908.8:c.1019G>A (AIFM1)	ENSP00000315122.4:p.Gly340Glu
ENST00000416073.7:c.1016G>A (AIFM1)	ENSP00000402535.3:p.Gly339Glu
ENST00000533719.2:n.814G>A (AIFM1)
ENST00000535724.6:c.*250G>A (AIFM1)	ENSP00000446113.2:n.*250G>A
ENST00000674546.1:c.1022G>A (AIFM1)	ENSP00000501950.1:p.Gly341Glu
ENST00000674555.1:c.*757G>A (AIFM1)	ENSP00000502183.1:n.*757G>A
ENST00000674601.1:c.10G>A (AIFM1)
ENST00000674722.1:c.*190G>A (AIFM1)	ENSP00000501693.1:n.*190G>A
ENST00000674957.1:c.723G>A (AIFM1)
ENST00000674997.1:c.879G>A (AIFM1)	ENSP00000502124.1:n.879G>A
ENST00000675015.1:n.904G>A (AIFM1)
ENST00000675037.1:c.1022G>A (AIFM1)	ENSP00000501724.1:p.Gly341Glu
ENST00000675050.1:c.1010G>A (AIFM1)	ENSP00000502606.1:p.Gly337Glu
ENST00000675092.1:c.1022G>A (AIFM1)	ENSP00000501772.1:p.Gly341Glu
ENST00000675111.1:n.947G>A (AIFM1)
ENST00000675240.1:c.1022G>A (AIFM1)	ENSP00000501907.1:p.Gly341Glu
ENST00000675427.1:c.1022G>A (AIFM1)	ENSP00000501880.1:p.Gly341Glu
ENST00000675857.1:c.1016G>A (AIFM1)	ENSP00000502721.1:p.Gly339Glu
ENST00000676048.1:n.4144G>A (AIFM1)
ENST00000676144.1:c.797G>A (AIFM1)
ENST00000676229.1:c.1010G>A (AIFM1)	ENSP00000502184.1:p.Gly337Glu
ENST00000676328.1:c.1019G>A (AIFM1)	ENSP00000502068.1:p.Gly340Glu
ENST00000676436.1:c.1010G>A (AIFM1)	ENSP00000502669.1:p.Gly337Glu
ENST00000287295.7:c.1022G>A (AIFM1)	ENSP00000287295.3:p.Gly341Glu
ENST00000319908.7:c.1010G>A (AIFM1)	ENSP00000315122.3:p.Gly337Glu
ENST00000346424.6:c.161G>A (AIFM1)	ENSP00000316320.3:p.Gly54Glu
ENST00000416073.6:c.*250G>A (AIFM1)	ENSP00000402535.2:n.*250G>A
ENST00000460436.6:c.5G>A (AIFM1)	ENSP00000431222.1:p.Gly2Glu
ENST00000527892.5:c.*950G>A (AIFM1)	ENSP00000435955.1:n.*950G>A
ENST00000533719.1:n.725G>A (AIFM1)
ENST00000535724.5:c.*250G>A (AIFM1)	ENSP00000446113.2:n.*250G>A
NM_001130846.2:c.-35G>A (AIFM1)	NP_001124318.1:n.-35G>A
NM_001130846.3:c.5G>A (AIFM1)	NP_001124318.2:p.Gly2Glu
NM_001130847.3:c.*250G>A (AIFM1)	NP_001124319.1:n.*250G>A
NM_004208.3:c.1022G>A (AIFM1)	NP_004199.1:p.Gly341Glu
NM_145812.2:c.1010G>A (AIFM1)	NP_665811.1:p.Gly337Glu
NM_145813.2:c.161G>A (AIFM1)	NP_665812.1:p.Gly54Glu
NR_132647.1:n.1313G>A (AIFM1)
XM_017029963.2:c.30+19746C>T (RAB33A)	XP_016885452.1:n.30+19746C>T
NM_004208.4:c.1022G>A (AIFM1) MANE Select	NP_004199.1:p.Gly341Glu
NM_001130846.4:c.5G>A (AIFM1)	NP_001124318.2:p.Gly2Glu
NM_001130847.4:c.*250G>A (AIFM1)	NP_001124319.1:n.*250G>A
NM_145812.3:c.1010G>A (AIFM1)	NP_665811.1:p.Gly337Glu
NR_132647.2:n.1267G>A (AIFM1)