Canonical Allele Identifier: CA10515545

Gene: AIFM1 RAB33A

Linked Data

• ClinVar Variation Id: 512658
• ClinVar RCV Id: RCV001698067 ; RCV002350489
• dbSNP Id: rs140076585
• ExAC: X:129299577 G / C
• gnomAD v2: X-129299577-G-C
• gnomAD v3: X-130165603-G-C
• gnomAD v4: X-130165603-G-C
• MyVariant Identifiers: chrX:g.129299577G>C (hg19) ; chrX:g.130165603G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130165603G>C , CM000685.2:g.130165603G>C	GRCh38
NC_000023.10:g.129299577G>C , CM000685.1:g.129299577G>C	GRCh37
NC_000023.9:g.129127258G>C	NCBI36
NG_013217.1:g.5232C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287295.8:c.54C>G (AIFM1) MANE Select	ENSP00000287295.3:p.Pro18=
ENST00000319908.8:c.54C>G (AIFM1)	ENSP00000315122.4:p.Pro18=
ENST00000416073.7:c.54C>G (AIFM1)	ENSP00000402535.3:p.Pro18=
ENST00000535724.6:c.54C>G (AIFM1)	ENSP00000446113.2:p.Pro18=
ENST00000674546.1:c.54C>G (AIFM1)	ENSP00000501950.1:p.Pro18=
ENST00000674555.1:c.54C>G (AIFM1)	ENSP00000502183.1:p.Pro18=
ENST00000674722.1:c.54C>G (AIFM1)	ENSP00000501693.1:p.Pro18=
ENST00000674997.1:c.54C>G (AIFM1)	ENSP00000502124.1:p.Pro18=
ENST00000675037.1:c.54C>G (AIFM1)	ENSP00000501724.1:p.Pro18=
ENST00000675050.1:c.54C>G (AIFM1)	ENSP00000502606.1:p.Pro18=
ENST00000675092.1:c.54C>G (AIFM1)	ENSP00000501772.1:p.Pro18=
ENST00000675240.1:c.54C>G (AIFM1)	ENSP00000501907.1:p.Pro18=
ENST00000675427.1:c.54C>G (AIFM1)	ENSP00000501880.1:p.Pro18=
ENST00000675774.1:c.54C>G (AIFM1)	ENSP00000502690.1:p.Pro18=
ENST00000675857.1:c.54C>G (AIFM1)	ENSP00000502721.1:p.Pro18=
ENST00000676229.1:c.54C>G (AIFM1)	ENSP00000502184.1:p.Pro18=
ENST00000676328.1:c.54C>G (AIFM1)	ENSP00000502068.1:p.Pro18=
ENST00000676436.1:c.54C>G (AIFM1)	ENSP00000502669.1:p.Pro18=
ENST00000287295.7:c.54C>G (AIFM1)	ENSP00000287295.3:p.Pro18=
ENST00000319908.7:c.54C>G (AIFM1)	ENSP00000315122.3:p.Pro18=
ENST00000346424.6:c.54C>G (AIFM1)	ENSP00000316320.3:p.Pro18=
ENST00000416073.6:c.54C>G (AIFM1)	ENSP00000402535.2:p.Pro18=
ENST00000527892.5:c.54C>G (AIFM1)	ENSP00000435955.1:p.Pro18=
ENST00000529877.1:c.54C>G (AIFM1)	ENSP00000432998.1:p.Pro18=
ENST00000535724.5:c.54C>G (AIFM1)	ENSP00000446113.2:p.Pro18=
NM_001130847.3:c.54C>G (AIFM1)	NP_001124319.1:p.Pro18=
NM_004208.3:c.54C>G (AIFM1)	NP_004199.1:p.Pro18=
NM_145812.2:c.54C>G (AIFM1)	NP_665811.1:p.Pro18=
NM_145813.2:c.54C>G (AIFM1)	NP_665812.1:p.Pro18=
NR_132647.1:n.285C>G (AIFM1)
XM_017029963.2:c.31-18682G>C (RAB33A)	XP_016885452.1:n.31-18682G>C
NM_004208.4:c.54C>G (AIFM1) MANE Select	NP_004199.1:p.Pro18=
NM_001130847.4:c.54C>G (AIFM1)	NP_001124319.1:p.Pro18=
NM_145812.3:c.54C>G (AIFM1)	NP_665811.1:p.Pro18=
NR_132647.2:n.239C>G (AIFM1)