Canonical Allele Identifier: CA406296036
Gene: TOMM40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44892887C>A , CM000681.2:g.44892887C>A GRCh38
NC_000019.9:g.45396144C>A , CM000681.1:g.45396144C>A GRCh37
NC_000019.8:g.50087984C>A NCBI36
NG_042854.1:g.6668C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426677.7:c.393C>A MANE Select ENSP00000410339.1:p.Phe131Leu
ENST00000252487.9:c.393C>A ENSP00000252487.4:p.Phe131Leu
ENST00000405636.6:c.393C>A ENSP00000385184.2:p.Phe131Leu
ENST00000426677.6:c.393C>A ENSP00000410339.1:p.Phe131Leu
ENST00000589649.1:c.393C>A ENSP00000465032.1:p.Phe131Leu
ENST00000592434.5:c.393C>A ENSP00000466084.1:p.Phe131Leu
NM_001128916.1:c.393C>A NP_001122388.1:p.Phe131Leu
NM_001128917.1:c.393C>A NP_001122389.1:p.Phe131Leu
NM_006114.2:c.393C>A NP_006105.1:p.Phe131Leu
XM_005258411.2:c.393C>A XP_005258468.1:p.Phe131Leu
XM_005258411.4:c.393C>A XP_005258468.1:p.Phe131Leu
NM_001128917.2:c.393C>A MANE Select NP_001122389.1:p.Phe131Leu
NM_006114.3:c.393C>A NP_006105.1:p.Phe131Leu
NM_001128916.2:c.393C>A NP_001122388.1:p.Phe131Leu