Canonical Allele Identifier: CA2538894960

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130137223-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130137223A>G , CM000685.2:g.130137223A>G	GRCh38
NC_000023.10:g.129271198A>G , CM000685.1:g.129271198A>G	GRCh37
NC_000023.9:g.129098879A>G	NCBI36
NG_013217.1:g.33611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.968-38T>C (AIFM1) MANE Select	ENSP00000287295.3:n.968-38T>C
ENST00000319908.8:c.965-38T>C (AIFM1)	ENSP00000315122.4:n.965-38T>C
ENST00000416073.7:c.962-38T>C (AIFM1)	ENSP00000402535.3:n.962-38T>C
ENST00000533719.2:n.760-38T>C (AIFM1)
ENST00000535724.6:c.*196-38T>C (AIFM1)	ENSP00000446113.2:n.*196-38T>C
ENST00000674546.1:c.968-38T>C (AIFM1)	ENSP00000501950.1:n.968-38T>C
ENST00000674555.1:c.*703-38T>C (AIFM1)	ENSP00000502183.1:n.*703-38T>C
ENST00000674722.1:c.*136-38T>C (AIFM1)	ENSP00000501693.1:n.*136-38T>C
ENST00000674957.1:c.669-38T>C (AIFM1)
ENST00000674997.1:c.825-38T>C (AIFM1)	ENSP00000502124.1:n.825-38T>C
ENST00000675015.1:n.812T>C (AIFM1)
ENST00000675037.1:c.968-38T>C (AIFM1)	ENSP00000501724.1:n.968-38T>C
ENST00000675050.1:c.956-38T>C (AIFM1)	ENSP00000502606.1:n.956-38T>C
ENST00000675092.1:c.968-38T>C (AIFM1)	ENSP00000501772.1:n.968-38T>C
ENST00000675111.1:n.893-38T>C (AIFM1)
ENST00000675240.1:c.968-38T>C (AIFM1)	ENSP00000501907.1:n.968-38T>C
ENST00000675427.1:c.968-38T>C (AIFM1)	ENSP00000501880.1:n.968-38T>C
ENST00000675857.1:c.962-38T>C (AIFM1)	ENSP00000502721.1:n.962-38T>C
ENST00000676048.1:n.4090-38T>C (AIFM1)
ENST00000676144.1:c.743-38T>C (AIFM1)
ENST00000676229.1:c.956-38T>C (AIFM1)	ENSP00000502184.1:n.956-38T>C
ENST00000676328.1:c.965-38T>C (AIFM1)	ENSP00000502068.1:n.965-38T>C
ENST00000676436.1:c.962-44T>C (AIFM1)	ENSP00000502669.1:n.962-44T>C
ENST00000287295.7:c.968-38T>C (AIFM1)	ENSP00000287295.3:n.968-38T>C
ENST00000319908.7:c.956-38T>C (AIFM1)	ENSP00000315122.3:n.956-38T>C
ENST00000346424.6:c.107-38T>C (AIFM1)	ENSP00000316320.3:n.107-38T>C
ENST00000416073.6:c.*196-38T>C (AIFM1)	ENSP00000402535.2:n.*196-38T>C
ENST00000460436.6:c.-88T>C (AIFM1)	ENSP00000431222.1:n.-88T>C
ENST00000527892.5:c.*896-38T>C (AIFM1)	ENSP00000435955.1:n.*896-38T>C
ENST00000533719.1:n.671-38T>C (AIFM1)
ENST00000535724.5:c.*196-38T>C (AIFM1)	ENSP00000446113.2:n.*196-38T>C
NM_001130846.2:c.-127T>C (AIFM1)	NP_001124318.1:n.-127T>C
NM_001130846.3:c.-88T>C (AIFM1)	NP_001124318.2:n.-88T>C
NM_001130847.3:c.*196-38T>C (AIFM1)	NP_001124319.1:n.*196-38T>C
NM_004208.3:c.968-38T>C (AIFM1)	NP_004199.1:n.968-38T>C
NM_145812.2:c.956-38T>C (AIFM1)	NP_665811.1:n.956-38T>C
NM_145813.2:c.107-38T>C (AIFM1)	NP_665812.1:n.107-38T>C
NR_132647.1:n.1259-38T>C (AIFM1)
XM_017029963.2:c.30+19838A>G (RAB33A)	XP_016885452.1:n.30+19838A>G
NM_004208.4:c.968-38T>C (AIFM1) MANE Select	NP_004199.1:n.968-38T>C
NM_001130846.4:c.-88T>C (AIFM1)	NP_001124318.2:n.-88T>C
NM_001130847.4:c.*196-38T>C (AIFM1)	NP_001124319.1:n.*196-38T>C
NM_145812.3:c.956-38T>C (AIFM1)	NP_665811.1:n.956-38T>C
NR_132647.2:n.1213-38T>C (AIFM1)