Canonical Allele Identifier: CA335119849

Gene: AIFM1 RAB33A

Linked Data

• dbSNP Id: rs887431376
• gnomAD v3: X-130139727-T-G
• gnomAD v4: X-130139727-T-G
• MyVariant Identifiers: chrX:g.129273702T>G (hg19) ; chrX:g.130139727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130139727T>G , CM000685.2:g.130139727T>G	GRCh38
NC_000023.10:g.129273702T>G , CM000685.1:g.129273702T>G	GRCh37
NC_000023.9:g.129101383T>G	NCBI36
NG_013217.1:g.31107A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.858+68A>C (AIFM1) MANE Select	ENSP00000287295.3:n.858+68A>C
ENST00000319908.8:c.855+68A>C (AIFM1)	ENSP00000315122.4:n.855+68A>C
ENST00000416073.7:c.852+68A>C (AIFM1)	ENSP00000402535.3:n.852+68A>C
ENST00000533719.2:n.650+68A>C (AIFM1)
ENST00000535724.6:c.858+68A>C (AIFM1)	ENSP00000446113.2:n.858+68A>C
ENST00000674546.1:c.858+68A>C (AIFM1)	ENSP00000501950.1:n.858+68A>C
ENST00000674555.1:c.*593+68A>C (AIFM1)	ENSP00000502183.1:n.*593+68A>C
ENST00000674722.1:c.*26+68A>C (AIFM1)	ENSP00000501693.1:n.*26+68A>C
ENST00000674957.1:c.559+68A>C (AIFM1)
ENST00000674997.1:c.715+68A>C (AIFM1)	ENSP00000502124.1:n.715+68A>C
ENST00000675037.1:c.858+68A>C (AIFM1)	ENSP00000501724.1:n.858+68A>C
ENST00000675050.1:c.846+68A>C (AIFM1)	ENSP00000502606.1:n.846+68A>C
ENST00000675092.1:c.858+68A>C (AIFM1)	ENSP00000501772.1:n.858+68A>C
ENST00000675111.1:n.783+68A>C (AIFM1)
ENST00000675240.1:c.858+68A>C (AIFM1)	ENSP00000501907.1:n.858+68A>C
ENST00000675427.1:c.858+68A>C (AIFM1)	ENSP00000501880.1:n.858+68A>C
ENST00000675774.1:c.*642+68A>C (AIFM1)	ENSP00000502690.1:n.*642+68A>C
ENST00000675857.1:c.852+68A>C (AIFM1)	ENSP00000502721.1:n.852+68A>C
ENST00000676048.1:n.3980+68A>C (AIFM1)
ENST00000676144.1:c.633+68A>C (AIFM1)
ENST00000676229.1:c.846+68A>C (AIFM1)	ENSP00000502184.1:n.846+68A>C
ENST00000676328.1:c.855+68A>C (AIFM1)	ENSP00000502068.1:n.855+68A>C
ENST00000676436.1:c.852+68A>C (AIFM1)	ENSP00000502669.1:n.852+68A>C
ENST00000287295.7:c.858+68A>C (AIFM1)	ENSP00000287295.3:n.858+68A>C
ENST00000319908.7:c.846+68A>C (AIFM1)	ENSP00000315122.3:n.846+68A>C
ENST00000346424.6:c.107-2542A>C (AIFM1)	ENSP00000316320.3:n.107-2542A>C
ENST00000416073.6:c.858+68A>C (AIFM1)	ENSP00000402535.2:n.858+68A>C
ENST00000527892.5:c.*583+68A>C (AIFM1)	ENSP00000435955.1:n.*583+68A>C
ENST00000533719.1:n.561+68A>C (AIFM1)
ENST00000535724.5:c.858+68A>C (AIFM1)	ENSP00000446113.2:n.858+68A>C
NM_001130847.3:c.858+68A>C (AIFM1)	NP_001124319.1:n.858+68A>C
NM_004208.3:c.858+68A>C (AIFM1)	NP_004199.1:n.858+68A>C
NM_145812.2:c.846+68A>C (AIFM1)	NP_665811.1:n.846+68A>C
NM_145813.2:c.107-2542A>C (AIFM1)	NP_665812.1:n.107-2542A>C
NR_132647.1:n.946+68A>C (AIFM1)
XM_017029963.2:c.30+22342T>G (RAB33A)	XP_016885452.1:n.30+22342T>G
NM_004208.4:c.858+68A>C (AIFM1) MANE Select	NP_004199.1:n.858+68A>C
NM_001130847.4:c.858+68A>C (AIFM1)	NP_001124319.1:n.858+68A>C
NM_145812.3:c.846+68A>C (AIFM1)	NP_665811.1:n.846+68A>C
NR_132647.2:n.900+68A>C (AIFM1)