Canonical Allele Identifier: CA518469664
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.129273770C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139795C>T , CM000685.2:g.130139795C>T GRCh38
NC_000023.10:g.129273770C>T , CM000685.1:g.129273770C>T GRCh37
NC_000023.9:g.129101451C>T NCBI36
NG_013217.1:g.31039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.858G>A (AIFM1) MANE Select ENSP00000287295.3:p.Lys286=
ENST00000319908.8:c.855G>A (AIFM1) ENSP00000315122.4:p.Lys285=
ENST00000416073.7:c.852G>A (AIFM1) ENSP00000402535.3:p.Lys284=
ENST00000533719.2:n.650G>A (AIFM1)
ENST00000535724.6:c.858G>A (AIFM1) ENSP00000446113.2:p.Lys286=
ENST00000674546.1:c.858G>A (AIFM1) ENSP00000501950.1:p.Lys286=
ENST00000674555.1:c.*593G>A (AIFM1) ENSP00000502183.1:n.*593G>A
ENST00000674722.1:c.*26G>A (AIFM1) ENSP00000501693.1:n.*26G>A
ENST00000674957.1:c.559G>A (AIFM1)
ENST00000674997.1:c.715G>A (AIFM1) ENSP00000502124.1:n.715G>A
ENST00000675037.1:c.858G>A (AIFM1) ENSP00000501724.1:p.Lys286=
ENST00000675050.1:c.846G>A (AIFM1) ENSP00000502606.1:p.Lys282=
ENST00000675092.1:c.858G>A (AIFM1) ENSP00000501772.1:p.Lys286=
ENST00000675111.1:n.783G>A (AIFM1)
ENST00000675240.1:c.858G>A (AIFM1) ENSP00000501907.1:p.Lys286=
ENST00000675427.1:c.858G>A (AIFM1) ENSP00000501880.1:p.Lys286=
ENST00000675774.1:c.*642G>A (AIFM1) ENSP00000502690.1:n.*642G>A
ENST00000675857.1:c.852G>A (AIFM1) ENSP00000502721.1:p.Lys284=
ENST00000676048.1:n.3980G>A (AIFM1)
ENST00000676144.1:c.633G>A (AIFM1)
ENST00000676229.1:c.846G>A (AIFM1) ENSP00000502184.1:p.Lys282=
ENST00000676328.1:c.855G>A (AIFM1) ENSP00000502068.1:p.Lys285=
ENST00000676436.1:c.852G>A (AIFM1) ENSP00000502669.1:p.Lys284=
ENST00000287295.7:c.858G>A (AIFM1) ENSP00000287295.3:p.Lys286=
ENST00000319908.7:c.846G>A (AIFM1) ENSP00000315122.3:p.Lys282=
ENST00000346424.6:c.107-2610G>A (AIFM1) ENSP00000316320.3:n.107-2610G>A
ENST00000416073.6:c.858G>A (AIFM1) ENSP00000402535.2:p.Lys286=
ENST00000527892.5:c.*583G>A (AIFM1) ENSP00000435955.1:n.*583G>A
ENST00000533719.1:n.561G>A (AIFM1)
ENST00000535724.5:c.858G>A (AIFM1) ENSP00000446113.2:p.Lys286=
NM_001130847.3:c.858G>A (AIFM1) NP_001124319.1:p.Lys286=
NM_004208.3:c.858G>A (AIFM1) NP_004199.1:p.Lys286=
NM_145812.2:c.846G>A (AIFM1) NP_665811.1:p.Lys282=
NM_145813.2:c.107-2610G>A (AIFM1) NP_665812.1:n.107-2610G>A
NR_132647.1:n.946G>A (AIFM1)
XM_017029963.2:c.30+22410C>T (RAB33A) XP_016885452.1:n.30+22410C>T
NM_004208.4:c.858G>A (AIFM1) MANE Select NP_004199.1:p.Lys286=
NM_001130847.4:c.858G>A (AIFM1) NP_001124319.1:p.Lys286=
NM_145812.3:c.846G>A (AIFM1) NP_665811.1:p.Lys282=
NR_132647.2:n.900G>A (AIFM1)