Canonical Allele Identifier: CA335119449
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Linked Data

dbSNP Id: rs121965089

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130138622C>T , CM000685.2:g.130138622C>T GRCh38
NC_000023.10:g.129272597C>T , CM000685.1:g.129272597C>T GRCh37
NC_000023.9:g.129100278C>T NCBI36
NG_013217.1:g.32212G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287295.8:c.938G>A (AIFM1) MANE Select ENSP00000287295.3:p.Ser313Asn
ENST00000319908.8:c.935G>A (AIFM1) ENSP00000315122.4:p.Ser312Asn
ENST00000416073.7:c.932G>A (AIFM1) ENSP00000402535.3:p.Ser311Asn
ENST00000533719.2:n.730G>A (AIFM1)
ENST00000535724.6:c.938G>A (AIFM1) ENSP00000446113.2:p.Ser313Asn
ENST00000674546.1:c.938G>A (AIFM1) ENSP00000501950.1:p.Ser313Asn
ENST00000674555.1:c.*673G>A (AIFM1) ENSP00000502183.1:n.*673G>A
ENST00000674722.1:c.*106G>A (AIFM1) ENSP00000501693.1:n.*106G>A
ENST00000674957.1:c.639G>A (AIFM1)
ENST00000674997.1:c.795G>A (AIFM1) ENSP00000502124.1:n.795G>A
ENST00000675037.1:c.938G>A (AIFM1) ENSP00000501724.1:p.Ser313Asn
ENST00000675050.1:c.926G>A (AIFM1) ENSP00000502606.1:p.Ser309Asn
ENST00000675092.1:c.938G>A (AIFM1) ENSP00000501772.1:p.Ser313Asn
ENST00000675111.1:n.863G>A (AIFM1)
ENST00000675240.1:c.938G>A (AIFM1) ENSP00000501907.1:p.Ser313Asn
ENST00000675427.1:c.938G>A (AIFM1) ENSP00000501880.1:p.Ser313Asn
ENST00000675774.1:c.*722G>A (AIFM1) ENSP00000502690.1:n.*722G>A
ENST00000675857.1:c.932G>A (AIFM1) ENSP00000502721.1:p.Ser311Asn
ENST00000676048.1:n.4060G>A (AIFM1)
ENST00000676144.1:c.713G>A (AIFM1)
ENST00000676229.1:c.926G>A (AIFM1) ENSP00000502184.1:p.Ser309Asn
ENST00000676328.1:c.935G>A (AIFM1) ENSP00000502068.1:p.Ser312Asn
ENST00000676436.1:c.932G>A (AIFM1) ENSP00000502669.1:p.Ser311Asn
ENST00000287295.7:c.938G>A (AIFM1) ENSP00000287295.3:p.Ser313Asn
ENST00000319908.7:c.926G>A (AIFM1) ENSP00000315122.3:p.Ser309Asn
ENST00000346424.6:c.107-1437G>A (AIFM1) ENSP00000316320.3:n.107-1437G>A
ENST00000416073.6:c.938G>A (AIFM1) ENSP00000402535.2:p.Ser313Asn
ENST00000527892.5:c.*663G>A (AIFM1) ENSP00000435955.1:n.*663G>A
ENST00000533719.1:n.641G>A (AIFM1)
ENST00000535724.5:c.938G>A (AIFM1) ENSP00000446113.2:p.Ser313Asn
NM_001130847.3:c.938G>A (AIFM1) NP_001124319.1:p.Ser313Asn
NM_004208.3:c.938G>A (AIFM1) NP_004199.1:p.Ser313Asn
NM_145812.2:c.926G>A (AIFM1) NP_665811.1:p.Ser309Asn
NM_145813.2:c.107-1437G>A (AIFM1) NP_665812.1:n.107-1437G>A
NR_132647.1:n.1026G>A (AIFM1)
XM_017029963.2:c.30+21237C>T (RAB33A) XP_016885452.1:n.30+21237C>T
NM_004208.4:c.938G>A (AIFM1) MANE Select NP_004199.1:p.Ser313Asn
NM_001130847.4:c.938G>A (AIFM1) NP_001124319.1:p.Ser313Asn
NM_145812.3:c.926G>A (AIFM1) NP_665811.1:p.Ser309Asn
NR_132647.2:n.980G>A (AIFM1)