Canonical Allele Identifier: CA518469762
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.129273797C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139822C>A , CM000685.2:g.130139822C>A GRCh38
NC_000023.10:g.129273797C>A , CM000685.1:g.129273797C>A GRCh37
NC_000023.9:g.129101478C>A NCBI36
NG_013217.1:g.31012G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.831G>T (AIFM1) MANE Select ENSP00000287295.3:p.Val277=
ENST00000319908.8:c.828G>T (AIFM1) ENSP00000315122.4:p.Val276=
ENST00000416073.7:c.825G>T (AIFM1) ENSP00000402535.3:p.Val275=
ENST00000533719.2:n.623G>T (AIFM1)
ENST00000535724.6:c.831G>T (AIFM1) ENSP00000446113.2:p.Val277=
ENST00000674546.1:c.831G>T (AIFM1) ENSP00000501950.1:p.Val277=
ENST00000674555.1:c.*566G>T (AIFM1) ENSP00000502183.1:n.*566G>T
ENST00000674722.1:c.746G>T (AIFM1) ENSP00000501693.1:p.Ter249Leu
ENST00000674957.1:c.532G>T (AIFM1)
ENST00000674997.1:c.688G>T (AIFM1) ENSP00000502124.1:n.688G>T
ENST00000675037.1:c.831G>T (AIFM1) ENSP00000501724.1:p.Val277=
ENST00000675050.1:c.819G>T (AIFM1) ENSP00000502606.1:p.Val273=
ENST00000675092.1:c.831G>T (AIFM1) ENSP00000501772.1:p.Val277=
ENST00000675111.1:n.756G>T (AIFM1)
ENST00000675240.1:c.831G>T (AIFM1) ENSP00000501907.1:p.Val277=
ENST00000675427.1:c.831G>T (AIFM1) ENSP00000501880.1:p.Val277=
ENST00000675774.1:c.*615G>T (AIFM1) ENSP00000502690.1:n.*615G>T
ENST00000675857.1:c.825G>T (AIFM1) ENSP00000502721.1:p.Val275=
ENST00000676048.1:n.3953G>T (AIFM1)
ENST00000676144.1:c.606G>T (AIFM1)
ENST00000676229.1:c.819G>T (AIFM1) ENSP00000502184.1:p.Val273=
ENST00000676328.1:c.828G>T (AIFM1) ENSP00000502068.1:p.Val276=
ENST00000676436.1:c.825G>T (AIFM1) ENSP00000502669.1:p.Val275=
ENST00000287295.7:c.831G>T (AIFM1) ENSP00000287295.3:p.Val277=
ENST00000319908.7:c.819G>T (AIFM1) ENSP00000315122.3:p.Val273=
ENST00000346424.6:c.107-2637G>T (AIFM1) ENSP00000316320.3:n.107-2637G>T
ENST00000416073.6:c.831G>T (AIFM1) ENSP00000402535.2:p.Val277=
ENST00000527892.5:c.*556G>T (AIFM1) ENSP00000435955.1:n.*556G>T
ENST00000533719.1:n.534G>T (AIFM1)
ENST00000535724.5:c.831G>T (AIFM1) ENSP00000446113.2:p.Val277=
NM_001130847.3:c.831G>T (AIFM1) NP_001124319.1:p.Val277=
NM_004208.3:c.831G>T (AIFM1) NP_004199.1:p.Val277=
NM_145812.2:c.819G>T (AIFM1) NP_665811.1:p.Val273=
NM_145813.2:c.107-2637G>T (AIFM1) NP_665812.1:n.107-2637G>T
NR_132647.1:n.919G>T (AIFM1)
XM_017029963.2:c.30+22437C>A (RAB33A) XP_016885452.1:n.30+22437C>A
NM_004208.4:c.831G>T (AIFM1) MANE Select NP_004199.1:p.Val277=
NM_001130847.4:c.831G>T (AIFM1) NP_001124319.1:p.Val277=
NM_145812.3:c.819G>T (AIFM1) NP_665811.1:p.Val273=
NR_132647.2:n.873G>T (AIFM1)