Canonical Allele Identifier: CA414582471

Gene: AIFM1 RAB33A

Linked Data

• dbSNP Id: rs1426472041
• gnomAD v2: X-129273811-C-T
• MyVariant Identifiers: chrX:g.129273811C>T (hg19) ; chrX:g.130139836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139836C>T , CM000685.2:g.130139836C>T	GRCh38
NC_000023.10:g.129273811C>T , CM000685.1:g.129273811C>T	GRCh37
NC_000023.9:g.129101492C>T	NCBI36
NG_013217.1:g.30998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.817G>A (AIFM1) MANE Select	ENSP00000287295.3:p.Ala273Thr
ENST00000319908.8:c.814G>A (AIFM1)	ENSP00000315122.4:p.Ala272Thr
ENST00000416073.7:c.811G>A (AIFM1)	ENSP00000402535.3:p.Ala271Thr
ENST00000533719.2:n.609G>A (AIFM1)
ENST00000535724.6:c.817G>A (AIFM1)	ENSP00000446113.2:p.Ala273Thr
ENST00000674546.1:c.817G>A (AIFM1)	ENSP00000501950.1:p.Ala273Thr
ENST00000674555.1:c.*552G>A (AIFM1)	ENSP00000502183.1:n.*552G>A
ENST00000674722.1:c.732G>A (AIFM1)	ENSP00000501693.1:p.Gly244=
ENST00000674957.1:c.518G>A (AIFM1)
ENST00000674997.1:c.674G>A (AIFM1)	ENSP00000502124.1:n.674G>A
ENST00000675037.1:c.817G>A (AIFM1)	ENSP00000501724.1:p.Ala273Thr
ENST00000675050.1:c.805G>A (AIFM1)	ENSP00000502606.1:p.Ala269Thr
ENST00000675092.1:c.817G>A (AIFM1)	ENSP00000501772.1:p.Ala273Thr
ENST00000675111.1:n.742G>A (AIFM1)
ENST00000675240.1:c.817G>A (AIFM1)	ENSP00000501907.1:p.Ala273Thr
ENST00000675427.1:c.817G>A (AIFM1)	ENSP00000501880.1:p.Ala273Thr
ENST00000675774.1:c.*601G>A (AIFM1)	ENSP00000502690.1:n.*601G>A
ENST00000675857.1:c.811G>A (AIFM1)	ENSP00000502721.1:p.Ala271Thr
ENST00000676048.1:n.3939G>A (AIFM1)
ENST00000676144.1:c.592G>A (AIFM1)
ENST00000676229.1:c.805G>A (AIFM1)	ENSP00000502184.1:p.Ala269Thr
ENST00000676328.1:c.814G>A (AIFM1)	ENSP00000502068.1:p.Ala272Thr
ENST00000676436.1:c.811G>A (AIFM1)	ENSP00000502669.1:p.Ala271Thr
ENST00000287295.7:c.817G>A (AIFM1)	ENSP00000287295.3:p.Ala273Thr
ENST00000319908.7:c.805G>A (AIFM1)	ENSP00000315122.3:p.Ala269Thr
ENST00000346424.6:c.107-2651G>A (AIFM1)	ENSP00000316320.3:n.107-2651G>A
ENST00000416073.6:c.817G>A (AIFM1)	ENSP00000402535.2:p.Ala273Thr
ENST00000527892.5:c.*542G>A (AIFM1)	ENSP00000435955.1:n.*542G>A
ENST00000533719.1:n.520G>A (AIFM1)
ENST00000535724.5:c.817G>A (AIFM1)	ENSP00000446113.2:p.Ala273Thr
NM_001130847.3:c.817G>A (AIFM1)	NP_001124319.1:p.Ala273Thr
NM_004208.3:c.817G>A (AIFM1)	NP_004199.1:p.Ala273Thr
NM_145812.2:c.805G>A (AIFM1)	NP_665811.1:p.Ala269Thr
NM_145813.2:c.107-2651G>A (AIFM1)	NP_665812.1:n.107-2651G>A
NR_132647.1:n.905G>A (AIFM1)
XM_017029963.2:c.30+22451C>T (RAB33A)	XP_016885452.1:n.30+22451C>T
NM_004208.4:c.817G>A (AIFM1) MANE Select	NP_004199.1:p.Ala273Thr
NM_001130847.4:c.817G>A (AIFM1)	NP_001124319.1:p.Ala273Thr
NM_145812.3:c.805G>A (AIFM1)	NP_665811.1:p.Ala269Thr
NR_132647.2:n.859G>A (AIFM1)