Canonical Allele Identifier: CA406295783
Gene: TOMM40 HGNC NCBI

Linked Data

dbSNP Id: rs1246163172

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44892402C>T , CM000681.2:g.44892402C>T GRCh38
NC_000019.9:g.45395659C>T , CM000681.1:g.45395659C>T GRCh37
NC_000019.8:g.50087499C>T NCBI36
NG_042854.1:g.6183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426677.7:c.284C>T MANE Select ENSP00000410339.1:p.Pro95Leu
ENST00000252487.9:c.284C>T ENSP00000252487.4:p.Pro95Leu
ENST00000405636.6:c.284C>T ENSP00000385184.2:p.Pro95Leu
ENST00000426677.6:c.284C>T ENSP00000410339.1:p.Pro95Leu
ENST00000589649.1:c.284C>T ENSP00000465032.1:p.Pro95Leu
ENST00000592434.5:c.284C>T ENSP00000466084.1:p.Pro95Leu
NM_001128916.1:c.284C>T NP_001122388.1:p.Pro95Leu
NM_001128917.1:c.284C>T NP_001122389.1:p.Pro95Leu
NM_006114.2:c.284C>T NP_006105.1:p.Pro95Leu
XM_005258411.2:c.284C>T XP_005258468.1:p.Pro95Leu
XM_005258411.4:c.284C>T XP_005258468.1:p.Pro95Leu
NM_001128917.2:c.284C>T MANE Select NP_001122389.1:p.Pro95Leu
NM_006114.3:c.284C>T NP_006105.1:p.Pro95Leu
NM_001128916.2:c.284C>T NP_001122388.1:p.Pro95Leu