Canonical Allele Identifier: CA414582752

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130139869-C-A
• MyVariant Identifiers: chrX:g.129273844C>A (hg19) ; chrX:g.130139869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139869C>A , CM000685.2:g.130139869C>A	GRCh38
NC_000023.10:g.129273844C>A , CM000685.1:g.129273844C>A	GRCh37
NC_000023.9:g.129101525C>A	NCBI36
NG_013217.1:g.30965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.784G>T (AIFM1) MANE Select	ENSP00000287295.3:p.Gly262Cys
ENST00000319908.8:c.782-1G>T (AIFM1)	ENSP00000315122.4:n.782-1G>T
ENST00000416073.7:c.778G>T (AIFM1)	ENSP00000402535.3:p.Gly260Cys
ENST00000533719.2:n.576G>T (AIFM1)
ENST00000535724.6:c.784G>T (AIFM1)	ENSP00000446113.2:p.Gly262Cys
ENST00000674546.1:c.784G>T (AIFM1)	ENSP00000501950.1:p.Gly262Cys
ENST00000674555.1:c.*519G>T (AIFM1)	ENSP00000502183.1:n.*519G>T
ENST00000674722.1:c.699G>T (AIFM1)	ENSP00000501693.1:p.Glu233Asp
ENST00000674957.1:c.485G>T (AIFM1)
ENST00000674997.1:c.641G>T (AIFM1)	ENSP00000502124.1:n.641G>T
ENST00000675037.1:c.784G>T (AIFM1)	ENSP00000501724.1:p.Gly262Cys
ENST00000675050.1:c.772G>T (AIFM1)	ENSP00000502606.1:p.Gly258Cys
ENST00000675092.1:c.784G>T (AIFM1)	ENSP00000501772.1:p.Gly262Cys
ENST00000675111.1:n.709G>T (AIFM1)
ENST00000675240.1:c.784G>T (AIFM1)	ENSP00000501907.1:p.Gly262Cys
ENST00000675427.1:c.784G>T (AIFM1)	ENSP00000501880.1:p.Gly262Cys
ENST00000675774.1:c.*568G>T (AIFM1)	ENSP00000502690.1:n.*568G>T
ENST00000675857.1:c.778G>T (AIFM1)	ENSP00000502721.1:p.Gly260Cys
ENST00000676048.1:n.3906G>T (AIFM1)
ENST00000676144.1:c.559G>T (AIFM1)
ENST00000676229.1:c.772G>T (AIFM1)	ENSP00000502184.1:p.Gly258Cys
ENST00000676328.1:c.782-1G>T (AIFM1)	ENSP00000502068.1:n.782-1G>T
ENST00000676436.1:c.778G>T (AIFM1)	ENSP00000502669.1:p.Gly260Cys
ENST00000287295.7:c.784G>T (AIFM1)	ENSP00000287295.3:p.Gly262Cys
ENST00000319908.7:c.772G>T (AIFM1)	ENSP00000315122.3:p.Gly258Cys
ENST00000346424.6:c.107-2684G>T (AIFM1)	ENSP00000316320.3:n.107-2684G>T
ENST00000416073.6:c.784G>T (AIFM1)	ENSP00000402535.2:p.Gly262Cys
ENST00000527892.5:c.*509G>T (AIFM1)	ENSP00000435955.1:n.*509G>T
ENST00000533719.1:n.487G>T (AIFM1)
ENST00000535724.5:c.784G>T (AIFM1)	ENSP00000446113.2:p.Gly262Cys
NM_001130847.3:c.784G>T (AIFM1)	NP_001124319.1:p.Gly262Cys
NM_004208.3:c.784G>T (AIFM1)	NP_004199.1:p.Gly262Cys
NM_145812.2:c.772G>T (AIFM1)	NP_665811.1:p.Gly258Cys
NM_145813.2:c.107-2684G>T (AIFM1)	NP_665812.1:n.107-2684G>T
NR_132647.1:n.872G>T (AIFM1)
XM_017029963.2:c.30+22484C>A (RAB33A)	XP_016885452.1:n.30+22484C>A
NM_004208.4:c.784G>T (AIFM1) MANE Select	NP_004199.1:p.Gly262Cys
NM_001130847.4:c.784G>T (AIFM1)	NP_001124319.1:p.Gly262Cys
NM_145812.3:c.772G>T (AIFM1)	NP_665811.1:p.Gly258Cys
NR_132647.2:n.826G>T (AIFM1)