Canonical Allele Identifier: CA414582194

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130139808-G-T
• MyVariant Identifiers: chrX:g.129273783G>T (hg19) ; chrX:g.130139808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139808G>T , CM000685.2:g.130139808G>T	GRCh38
NC_000023.10:g.129273783G>T , CM000685.1:g.129273783G>T	GRCh37
NC_000023.9:g.129101464G>T	NCBI36
NG_013217.1:g.31026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.845C>A (AIFM1) MANE Select	ENSP00000287295.3:p.Thr282Lys
ENST00000319908.8:c.842C>A (AIFM1)	ENSP00000315122.4:p.Thr281Lys
ENST00000416073.7:c.839C>A (AIFM1)	ENSP00000402535.3:p.Thr280Lys
ENST00000533719.2:n.637C>A (AIFM1)
ENST00000535724.6:c.845C>A (AIFM1)	ENSP00000446113.2:p.Thr282Lys
ENST00000674546.1:c.845C>A (AIFM1)	ENSP00000501950.1:p.Thr282Lys
ENST00000674555.1:c.*580C>A (AIFM1)	ENSP00000502183.1:n.*580C>A
ENST00000674722.1:c.*13C>A (AIFM1)	ENSP00000501693.1:n.*13C>A
ENST00000674957.1:c.546C>A (AIFM1)
ENST00000674997.1:c.702C>A (AIFM1)	ENSP00000502124.1:n.702C>A
ENST00000675037.1:c.845C>A (AIFM1)	ENSP00000501724.1:p.Thr282Lys
ENST00000675050.1:c.833C>A (AIFM1)	ENSP00000502606.1:p.Thr278Lys
ENST00000675092.1:c.845C>A (AIFM1)	ENSP00000501772.1:p.Thr282Lys
ENST00000675111.1:n.770C>A (AIFM1)
ENST00000675240.1:c.845C>A (AIFM1)	ENSP00000501907.1:p.Thr282Lys
ENST00000675427.1:c.845C>A (AIFM1)	ENSP00000501880.1:p.Thr282Lys
ENST00000675774.1:c.*629C>A (AIFM1)	ENSP00000502690.1:n.*629C>A
ENST00000675857.1:c.839C>A (AIFM1)	ENSP00000502721.1:p.Thr280Lys
ENST00000676048.1:n.3967C>A (AIFM1)
ENST00000676144.1:c.620C>A (AIFM1)
ENST00000676229.1:c.833C>A (AIFM1)	ENSP00000502184.1:p.Thr278Lys
ENST00000676328.1:c.842C>A (AIFM1)	ENSP00000502068.1:p.Thr281Lys
ENST00000676436.1:c.839C>A (AIFM1)	ENSP00000502669.1:p.Thr280Lys
ENST00000287295.7:c.845C>A (AIFM1)	ENSP00000287295.3:p.Thr282Lys
ENST00000319908.7:c.833C>A (AIFM1)	ENSP00000315122.3:p.Thr278Lys
ENST00000346424.6:c.107-2623C>A (AIFM1)	ENSP00000316320.3:n.107-2623C>A
ENST00000416073.6:c.845C>A (AIFM1)	ENSP00000402535.2:p.Thr282Lys
ENST00000527892.5:c.*570C>A (AIFM1)	ENSP00000435955.1:n.*570C>A
ENST00000533719.1:n.548C>A (AIFM1)
ENST00000535724.5:c.845C>A (AIFM1)	ENSP00000446113.2:p.Thr282Lys
NM_001130847.3:c.845C>A (AIFM1)	NP_001124319.1:p.Thr282Lys
NM_004208.3:c.845C>A (AIFM1)	NP_004199.1:p.Thr282Lys
NM_145812.2:c.833C>A (AIFM1)	NP_665811.1:p.Thr278Lys
NM_145813.2:c.107-2623C>A (AIFM1)	NP_665812.1:n.107-2623C>A
NR_132647.1:n.933C>A (AIFM1)
XM_017029963.2:c.30+22423G>T (RAB33A)	XP_016885452.1:n.30+22423G>T
NM_004208.4:c.845C>A (AIFM1) MANE Select	NP_004199.1:p.Thr282Lys
NM_001130847.4:c.845C>A (AIFM1)	NP_001124319.1:p.Thr282Lys
NM_145812.3:c.833C>A (AIFM1)	NP_665811.1:p.Thr278Lys
NR_132647.2:n.887C>A (AIFM1)