Canonical Allele Identifier: CA518469866
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.129273833T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139858T>C , CM000685.2:g.130139858T>C GRCh38
NC_000023.10:g.129273833T>C , CM000685.1:g.129273833T>C GRCh37
NC_000023.9:g.129101514T>C NCBI36
NG_013217.1:g.30976A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.795A>G (AIFM1) MANE Select ENSP00000287295.3:p.Arg265=
ENST00000319908.8:c.792A>G (AIFM1) ENSP00000315122.4:p.Arg264=
ENST00000416073.7:c.789A>G (AIFM1) ENSP00000402535.3:p.Arg263=
ENST00000533719.2:n.587A>G (AIFM1)
ENST00000535724.6:c.795A>G (AIFM1) ENSP00000446113.2:p.Arg265=
ENST00000674546.1:c.795A>G (AIFM1) ENSP00000501950.1:p.Arg265=
ENST00000674555.1:c.*530A>G (AIFM1) ENSP00000502183.1:n.*530A>G
ENST00000674722.1:c.710A>G (AIFM1) ENSP00000501693.1:p.Glu237Gly
ENST00000674957.1:c.496A>G (AIFM1)
ENST00000674997.1:c.652A>G (AIFM1) ENSP00000502124.1:n.652A>G
ENST00000675037.1:c.795A>G (AIFM1) ENSP00000501724.1:p.Arg265=
ENST00000675050.1:c.783A>G (AIFM1) ENSP00000502606.1:p.Arg261=
ENST00000675092.1:c.795A>G (AIFM1) ENSP00000501772.1:p.Arg265=
ENST00000675111.1:n.720A>G (AIFM1)
ENST00000675240.1:c.795A>G (AIFM1) ENSP00000501907.1:p.Arg265=
ENST00000675427.1:c.795A>G (AIFM1) ENSP00000501880.1:p.Arg265=
ENST00000675774.1:c.*579A>G (AIFM1) ENSP00000502690.1:n.*579A>G
ENST00000675857.1:c.789A>G (AIFM1) ENSP00000502721.1:p.Arg263=
ENST00000676048.1:n.3917A>G (AIFM1)
ENST00000676144.1:c.570A>G (AIFM1)
ENST00000676229.1:c.783A>G (AIFM1) ENSP00000502184.1:p.Arg261=
ENST00000676328.1:c.792A>G (AIFM1) ENSP00000502068.1:p.Arg264=
ENST00000676436.1:c.789A>G (AIFM1) ENSP00000502669.1:p.Arg263=
ENST00000287295.7:c.795A>G (AIFM1) ENSP00000287295.3:p.Arg265=
ENST00000319908.7:c.783A>G (AIFM1) ENSP00000315122.3:p.Arg261=
ENST00000346424.6:c.107-2673A>G (AIFM1) ENSP00000316320.3:n.107-2673A>G
ENST00000416073.6:c.795A>G (AIFM1) ENSP00000402535.2:p.Arg265=
ENST00000527892.5:c.*520A>G (AIFM1) ENSP00000435955.1:n.*520A>G
ENST00000533719.1:n.498A>G (AIFM1)
ENST00000535724.5:c.795A>G (AIFM1) ENSP00000446113.2:p.Arg265=
NM_001130847.3:c.795A>G (AIFM1) NP_001124319.1:p.Arg265=
NM_004208.3:c.795A>G (AIFM1) NP_004199.1:p.Arg265=
NM_145812.2:c.783A>G (AIFM1) NP_665811.1:p.Arg261=
NM_145813.2:c.107-2673A>G (AIFM1) NP_665812.1:n.107-2673A>G
NR_132647.1:n.883A>G (AIFM1)
XM_017029963.2:c.30+22473T>C (RAB33A) XP_016885452.1:n.30+22473T>C
NM_004208.4:c.795A>G (AIFM1) MANE Select NP_004199.1:p.Arg265=
NM_001130847.4:c.795A>G (AIFM1) NP_001124319.1:p.Arg265=
NM_145812.3:c.783A>G (AIFM1) NP_665811.1:p.Arg261=
NR_132647.2:n.837A>G (AIFM1)