Canonical Allele Identifier: CA414582744
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139868C>A , CM000685.2:g.130139868C>A GRCh38
NC_000023.10:g.129273843C>A , CM000685.1:g.129273843C>A GRCh37
NC_000023.9:g.129101524C>A NCBI36
NG_013217.1:g.30966G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.785G>T (AIFM1) MANE Select ENSP00000287295.3:p.Gly262Val
ENST00000319908.8:c.782G>T (AIFM1) ENSP00000315122.4:p.Gly261Val
ENST00000416073.7:c.779G>T (AIFM1) ENSP00000402535.3:p.Gly260Val
ENST00000533719.2:n.577G>T (AIFM1)
ENST00000535724.6:c.785G>T (AIFM1) ENSP00000446113.2:p.Gly262Val
ENST00000674546.1:c.785G>T (AIFM1) ENSP00000501950.1:p.Gly262Val
ENST00000674555.1:c.*520G>T (AIFM1) ENSP00000502183.1:n.*520G>T
ENST00000674722.1:c.700G>T (AIFM1) ENSP00000501693.1:p.Val234Leu
ENST00000674957.1:c.486G>T (AIFM1)
ENST00000674997.1:c.642G>T (AIFM1) ENSP00000502124.1:n.642G>T
ENST00000675037.1:c.785G>T (AIFM1) ENSP00000501724.1:p.Gly262Val
ENST00000675050.1:c.773G>T (AIFM1) ENSP00000502606.1:p.Gly258Val
ENST00000675092.1:c.785G>T (AIFM1) ENSP00000501772.1:p.Gly262Val
ENST00000675111.1:n.710G>T (AIFM1)
ENST00000675240.1:c.785G>T (AIFM1) ENSP00000501907.1:p.Gly262Val
ENST00000675427.1:c.785G>T (AIFM1) ENSP00000501880.1:p.Gly262Val
ENST00000675774.1:c.*569G>T (AIFM1) ENSP00000502690.1:n.*569G>T
ENST00000675857.1:c.779G>T (AIFM1) ENSP00000502721.1:p.Gly260Val
ENST00000676048.1:n.3907G>T (AIFM1)
ENST00000676144.1:c.560G>T (AIFM1)
ENST00000676229.1:c.773G>T (AIFM1) ENSP00000502184.1:p.Gly258Val
ENST00000676328.1:c.782G>T (AIFM1) ENSP00000502068.1:p.Gly261Val
ENST00000676436.1:c.779G>T (AIFM1) ENSP00000502669.1:p.Gly260Val
ENST00000287295.7:c.785G>T (AIFM1) ENSP00000287295.3:p.Gly262Val
ENST00000319908.7:c.773G>T (AIFM1) ENSP00000315122.3:p.Gly258Val
ENST00000346424.6:c.107-2683G>T (AIFM1) ENSP00000316320.3:n.107-2683G>T
ENST00000416073.6:c.785G>T (AIFM1) ENSP00000402535.2:p.Gly262Val
ENST00000527892.5:c.*510G>T (AIFM1) ENSP00000435955.1:n.*510G>T
ENST00000533719.1:n.488G>T (AIFM1)
ENST00000535724.5:c.785G>T (AIFM1) ENSP00000446113.2:p.Gly262Val
NM_001130847.3:c.785G>T (AIFM1) NP_001124319.1:p.Gly262Val
NM_004208.3:c.785G>T (AIFM1) NP_004199.1:p.Gly262Val
NM_145812.2:c.773G>T (AIFM1) NP_665811.1:p.Gly258Val
NM_145813.2:c.107-2683G>T (AIFM1) NP_665812.1:n.107-2683G>T
NR_132647.1:n.873G>T (AIFM1)
XM_017029963.2:c.30+22483C>A (RAB33A) XP_016885452.1:n.30+22483C>A
NM_004208.4:c.785G>T (AIFM1) MANE Select NP_004199.1:p.Gly262Val
NM_001130847.4:c.785G>T (AIFM1) NP_001124319.1:p.Gly262Val
NM_145812.3:c.773G>T (AIFM1) NP_665811.1:p.Gly258Val
NR_132647.2:n.827G>T (AIFM1)