Canonical Allele Identifier: CA414583511

Gene: AIFM1 RAB33A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130140604T>C , CM000685.2:g.130140604T>C	GRCh38
NC_000023.10:g.129274579T>C , CM000685.1:g.129274579T>C	GRCh37
NC_000023.9:g.129102260T>C	NCBI36
NG_013217.1:g.30230A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004208.4:c.710A>G (AIFM1) MANE Select	NP_004199.1:p.Asp237Gly
ENST00000287295.8:c.710A>G (AIFM1) MANE Select	ENSP00000287295.3:p.Asp237Gly
NM_001130847.3:c.710A>G (AIFM1)	NP_001124319.1:p.Asp237Gly
NM_001130847.4:c.710A>G (AIFM1)	NP_001124319.1:p.Asp237Gly
NM_004208.3:c.710A>G (AIFM1)	NP_004199.1:p.Asp237Gly
NM_145812.2:c.698A>G (AIFM1)	NP_665811.1:p.Asp233Gly
NM_145812.3:c.698A>G (AIFM1)	NP_665811.1:p.Asp233Gly
NM_145813.2:c.107-3419A>G (AIFM1)	NP_665812.1:n.107-3419A>G
NR_132647.1:n.798A>G (AIFM1)
NR_132647.2:n.752A>G (AIFM1)
ENST00000287295.7:c.710A>G (AIFM1)	ENSP00000287295.3:p.Asp237Gly
ENST00000319908.7:c.698A>G (AIFM1)	ENSP00000315122.3:p.Asp233Gly
ENST00000319908.8:c.710A>G (AIFM1)	ENSP00000315122.4:p.Asp237Gly
ENST00000346424.6:c.107-3419A>G (AIFM1)	ENSP00000316320.3:n.107-3419A>G
ENST00000416073.6:c.710A>G (AIFM1)	ENSP00000402535.2:p.Asp237Gly
ENST00000416073.7:c.704A>G (AIFM1)	ENSP00000402535.3:p.Asp235Gly
ENST00000527892.5:c.*435A>G (AIFM1)	ENSP00000435955.1:n.*435A>G
ENST00000533719.1:n.413A>G (AIFM1)
ENST00000533719.2:n.502A>G (AIFM1)
ENST00000535724.5:c.710A>G (AIFM1)	ENSP00000446113.2:p.Asp237Gly
ENST00000535724.6:c.710A>G (AIFM1)	ENSP00000446113.2:p.Asp237Gly
ENST00000674546.1:c.710A>G (AIFM1)	ENSP00000501950.1:p.Asp237Gly
ENST00000674555.1:c.*445A>G (AIFM1)	ENSP00000502183.1:n.*445A>G
ENST00000674722.1:c.697-733A>G (AIFM1)	ENSP00000501693.1:n.697-733A>G
ENST00000674957.1:c.411A>G (AIFM1)
ENST00000674997.1:c.567A>G (AIFM1)	ENSP00000502124.1:n.567A>G
ENST00000675037.1:c.710A>G (AIFM1)	ENSP00000501724.1:p.Asp237Gly
ENST00000675050.1:c.698A>G (AIFM1)	ENSP00000502606.1:p.Asp233Gly
ENST00000675092.1:c.710A>G (AIFM1)	ENSP00000501772.1:p.Asp237Gly
ENST00000675111.1:n.635A>G (AIFM1)
ENST00000675240.1:c.710A>G (AIFM1)	ENSP00000501907.1:p.Asp237Gly
ENST00000675427.1:c.710A>G (AIFM1)	ENSP00000501880.1:p.Asp237Gly
ENST00000675774.1:c.*494A>G (AIFM1)	ENSP00000502690.1:n.*494A>G
ENST00000675857.1:c.704A>G (AIFM1)	ENSP00000502721.1:p.Asp235Gly
ENST00000676048.1:n.3832A>G (AIFM1)
ENST00000676144.1:c.485A>G (AIFM1)
ENST00000676229.1:c.698A>G (AIFM1)	ENSP00000502184.1:p.Asp233Gly
ENST00000676328.1:c.710A>G (AIFM1)	ENSP00000502068.1:p.Asp237Gly
ENST00000676436.1:c.704A>G (AIFM1)	ENSP00000502669.1:p.Asp235Gly
XM_017029963.2:c.30+23219T>C (RAB33A)	XP_016885452.1:n.30+23219T>C