Canonical Allele Identifier: CA518469437

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130138684-G-A
• MyVariant Identifiers: chrX:g.129272659G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138684G>A , CM000685.2:g.130138684G>A	GRCh38
NC_000023.10:g.129272659G>A , CM000685.1:g.129272659G>A	GRCh37
NC_000023.9:g.129100340G>A	NCBI36
NG_013217.1:g.32150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.876C>T (AIFM1) MANE Select	ENSP00000287295.3:p.Ser292=
ENST00000319908.8:c.873C>T (AIFM1)	ENSP00000315122.4:p.Ser291=
ENST00000416073.7:c.870C>T (AIFM1)	ENSP00000402535.3:p.Ser290=
ENST00000533719.2:n.668C>T (AIFM1)
ENST00000535724.6:c.876C>T (AIFM1)	ENSP00000446113.2:p.Ser292=
ENST00000674546.1:c.876C>T (AIFM1)	ENSP00000501950.1:p.Ser292=
ENST00000674555.1:c.*611C>T (AIFM1)	ENSP00000502183.1:n.*611C>T
ENST00000674722.1:c.*44C>T (AIFM1)	ENSP00000501693.1:n.*44C>T
ENST00000674957.1:c.577C>T (AIFM1)
ENST00000674997.1:c.733C>T (AIFM1)	ENSP00000502124.1:n.733C>T
ENST00000675037.1:c.876C>T (AIFM1)	ENSP00000501724.1:p.Ser292=
ENST00000675050.1:c.864C>T (AIFM1)	ENSP00000502606.1:p.Ser288=
ENST00000675092.1:c.876C>T (AIFM1)	ENSP00000501772.1:p.Ser292=
ENST00000675111.1:n.801C>T (AIFM1)
ENST00000675240.1:c.876C>T (AIFM1)	ENSP00000501907.1:p.Ser292=
ENST00000675427.1:c.876C>T (AIFM1)	ENSP00000501880.1:p.Ser292=
ENST00000675774.1:c.*660C>T (AIFM1)	ENSP00000502690.1:n.*660C>T
ENST00000675857.1:c.870C>T (AIFM1)	ENSP00000502721.1:p.Ser290=
ENST00000676048.1:n.3998C>T (AIFM1)
ENST00000676144.1:c.651C>T (AIFM1)
ENST00000676229.1:c.864C>T (AIFM1)	ENSP00000502184.1:p.Ser288=
ENST00000676328.1:c.873C>T (AIFM1)	ENSP00000502068.1:p.Ser291=
ENST00000676436.1:c.870C>T (AIFM1)	ENSP00000502669.1:p.Ser290=
ENST00000287295.7:c.876C>T (AIFM1)	ENSP00000287295.3:p.Ser292=
ENST00000319908.7:c.864C>T (AIFM1)	ENSP00000315122.3:p.Ser288=
ENST00000346424.6:c.107-1499C>T (AIFM1)	ENSP00000316320.3:n.107-1499C>T
ENST00000416073.6:c.876C>T (AIFM1)	ENSP00000402535.2:p.Ser292=
ENST00000527892.5:c.*601C>T (AIFM1)	ENSP00000435955.1:n.*601C>T
ENST00000533719.1:n.579C>T (AIFM1)
ENST00000535724.5:c.876C>T (AIFM1)	ENSP00000446113.2:p.Ser292=
NM_001130847.3:c.876C>T (AIFM1)	NP_001124319.1:p.Ser292=
NM_004208.3:c.876C>T (AIFM1)	NP_004199.1:p.Ser292=
NM_145812.2:c.864C>T (AIFM1)	NP_665811.1:p.Ser288=
NM_145813.2:c.107-1499C>T (AIFM1)	NP_665812.1:n.107-1499C>T
NR_132647.1:n.964C>T (AIFM1)
XM_017029963.2:c.30+21299G>A (RAB33A)	XP_016885452.1:n.30+21299G>A
NM_004208.4:c.876C>T (AIFM1) MANE Select	NP_004199.1:p.Ser292=
NM_001130847.4:c.876C>T (AIFM1)	NP_001124319.1:p.Ser292=
NM_145812.3:c.864C>T (AIFM1)	NP_665811.1:p.Ser288=
NR_132647.2:n.918C>T (AIFM1)