Canonical Allele Identifier: CA175053

Gene: AIFM1 RAB33A

Linked Data

• ClinVar Variation Id: 162472
• ClinVar RCV Id: RCV000149857
• dbSNP Id: rs724160014
• gnomAD v3: X-130165779-C-G
• gnomAD v4: X-130165779-C-G
• MyVariant Identifiers: chrX:g.129299753C>G (hg19) ; chrX:g.130165779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130165779C>G , CM000685.2:g.130165779C>G	GRCh38
NC_000023.10:g.129299753C>G , CM000685.1:g.129299753C>G	GRCh37
NC_000023.9:g.129127434C>G	NCBI36
NG_013217.1:g.5056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.-123G>C (AIFM1) MANE Select	ENSP00000287295.3:n.-123G>C
ENST00000319908.8:c.-123G>C (AIFM1)	ENSP00000315122.4:n.-123G>C
ENST00000674546.1:c.-123G>C (AIFM1)	ENSP00000501950.1:n.-123G>C
ENST00000675240.1:c.-123G>C (AIFM1)	ENSP00000501907.1:n.-123G>C
ENST00000676229.1:c.-123G>C (AIFM1)	ENSP00000502184.1:n.-123G>C
ENST00000287295.7:c.-123G>C (AIFM1)	ENSP00000287295.3:n.-123G>C
ENST00000319908.7:c.-123G>C (AIFM1)	ENSP00000315122.3:n.-123G>C
ENST00000535724.5:c.-123G>C (AIFM1)	ENSP00000446113.2:n.-123G>C
NM_001130847.3:c.-123G>C (AIFM1)	NP_001124319.1:n.-123G>C
NM_004208.3:c.-123G>C (AIFM1)	NP_004199.1:n.-123G>C
NM_145812.2:c.-123G>C (AIFM1)	NP_665811.1:n.-123G>C
NM_145813.2:c.-123G>C (AIFM1)	NP_665812.1:n.-123G>C
NR_132647.1:n.109G>C (AIFM1)
XM_017029963.2:c.31-18506C>G (RAB33A)	XP_016885452.1:n.31-18506C>G
NM_004208.4:c.-123G>C (AIFM1) MANE Select	NP_004199.1:n.-123G>C
NM_001130847.4:c.-123G>C (AIFM1)	NP_001124319.1:n.-123G>C
NM_145812.3:c.-123G>C (AIFM1)	NP_665811.1:n.-123G>C
NR_132647.2:n.63G>C (AIFM1)