Canonical Allele Identifier: CA996250879

Gene: TOMM40

Linked Data

• dbSNP Id: rs1969476905
• gnomAD v3: 19-44892032-A-T
• gnomAD v4: 19-44892032-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44892032A>T , CM000681.2:g.44892032A>T	GRCh38
NC_000019.9:g.45395289A>T , CM000681.1:g.45395289A>T	GRCh37
NC_000019.8:g.50087129A>T	NCBI36
NG_042854.1:g.5813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426677.7:c.274+343A>T MANE Select	ENSP00000410339.1:n.274+343A>T
ENST00000252487.9:c.274+343A>T	ENSP00000252487.4:n.274+343A>T
ENST00000405636.6:c.274+343A>T	ENSP00000385184.2:n.274+343A>T
ENST00000426677.6:c.274+343A>T	ENSP00000410339.1:n.274+343A>T
ENST00000589649.1:c.274+343A>T	ENSP00000465032.1:n.274+343A>T
ENST00000592434.5:c.274+343A>T	ENSP00000466084.1:n.274+343A>T
NM_001128916.1:c.274+343A>T	NP_001122388.1:n.274+343A>T
NM_001128917.1:c.274+343A>T	NP_001122389.1:n.274+343A>T
NM_006114.2:c.274+343A>T	NP_006105.1:n.274+343A>T
XM_005258411.2:c.274+343A>T	XP_005258468.1:n.274+343A>T
XM_005258411.4:c.274+343A>T	XP_005258468.1:n.274+343A>T
NM_001128917.2:c.274+343A>T MANE Select	NP_001122389.1:n.274+343A>T
NM_006114.3:c.274+343A>T	NP_006105.1:n.274+343A>T
NM_001128916.2:c.274+343A>T	NP_001122388.1:n.274+343A>T