Canonical Allele Identifier: CA518469764

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130139822-C-T
• MyVariant Identifiers: chrX:g.129273797C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139822C>T , CM000685.2:g.130139822C>T	GRCh38
NC_000023.10:g.129273797C>T , CM000685.1:g.129273797C>T	GRCh37
NC_000023.9:g.129101478C>T	NCBI36
NG_013217.1:g.31012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.831G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Val277=
ENST00000319908.8:c.828G>A (AIFM1)	ENSP00000315122.4:p.Val276=
ENST00000416073.7:c.825G>A (AIFM1)	ENSP00000402535.3:p.Val275=
ENST00000533719.2:n.623G>A (AIFM1)
ENST00000535724.6:c.831G>A (AIFM1)	ENSP00000446113.2:p.Val277=
ENST00000674546.1:c.831G>A (AIFM1)	ENSP00000501950.1:p.Val277=
ENST00000674555.1:c.*566G>A (AIFM1)	ENSP00000502183.1:n.*566G>A
ENST00000674722.1:c.746G>A (AIFM1)	ENSP00000501693.1:p.Ter249=
ENST00000674957.1:c.532G>A (AIFM1)
ENST00000674997.1:c.688G>A (AIFM1)	ENSP00000502124.1:n.688G>A
ENST00000675037.1:c.831G>A (AIFM1)	ENSP00000501724.1:p.Val277=
ENST00000675050.1:c.819G>A (AIFM1)	ENSP00000502606.1:p.Val273=
ENST00000675092.1:c.831G>A (AIFM1)	ENSP00000501772.1:p.Val277=
ENST00000675111.1:n.756G>A (AIFM1)
ENST00000675240.1:c.831G>A (AIFM1)	ENSP00000501907.1:p.Val277=
ENST00000675427.1:c.831G>A (AIFM1)	ENSP00000501880.1:p.Val277=
ENST00000675774.1:c.*615G>A (AIFM1)	ENSP00000502690.1:n.*615G>A
ENST00000675857.1:c.825G>A (AIFM1)	ENSP00000502721.1:p.Val275=
ENST00000676048.1:n.3953G>A (AIFM1)
ENST00000676144.1:c.606G>A (AIFM1)
ENST00000676229.1:c.819G>A (AIFM1)	ENSP00000502184.1:p.Val273=
ENST00000676328.1:c.828G>A (AIFM1)	ENSP00000502068.1:p.Val276=
ENST00000676436.1:c.825G>A (AIFM1)	ENSP00000502669.1:p.Val275=
ENST00000287295.7:c.831G>A (AIFM1)	ENSP00000287295.3:p.Val277=
ENST00000319908.7:c.819G>A (AIFM1)	ENSP00000315122.3:p.Val273=
ENST00000346424.6:c.107-2637G>A (AIFM1)	ENSP00000316320.3:n.107-2637G>A
ENST00000416073.6:c.831G>A (AIFM1)	ENSP00000402535.2:p.Val277=
ENST00000527892.5:c.*556G>A (AIFM1)	ENSP00000435955.1:n.*556G>A
ENST00000533719.1:n.534G>A (AIFM1)
ENST00000535724.5:c.831G>A (AIFM1)	ENSP00000446113.2:p.Val277=
NM_001130847.3:c.831G>A (AIFM1)	NP_001124319.1:p.Val277=
NM_004208.3:c.831G>A (AIFM1)	NP_004199.1:p.Val277=
NM_145812.2:c.819G>A (AIFM1)	NP_665811.1:p.Val273=
NM_145813.2:c.107-2637G>A (AIFM1)	NP_665812.1:n.107-2637G>A
NR_132647.1:n.919G>A (AIFM1)
XM_017029963.2:c.30+22437C>T (RAB33A)	XP_016885452.1:n.30+22437C>T
NM_004208.4:c.831G>A (AIFM1) MANE Select	NP_004199.1:p.Val277=
NM_001130847.4:c.831G>A (AIFM1)	NP_001124319.1:p.Val277=
NM_145812.3:c.819G>A (AIFM1)	NP_665811.1:p.Val273=
NR_132647.2:n.873G>A (AIFM1)