Canonical Allele Identifier: CA2338164892
Community Standard Title: NM_001128917.2(TOMM40):c.*247G=
Gene: TOMM40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44903416G= , CM000681.2:g.44903416G= GRCh38
NC_000019.9:g.45406673G= , CM000681.1:g.45406673G= GRCh37
NC_000019.8:g.50098513G= NCBI36
NG_007084.2:g.2635G=
NG_042854.1:g.17197G=

Transcript Alleles

HGVS Amino-acid Change
NM_001128917.2:c.*247G= MANE Select NP_001122389.1:n.*247G=
ENST00000426677.7:c.*247G= MANE Select ENSP00000410339.1:n.*247G=
NM_001128916.1:c.*247G= NP_001122388.1:n.*247G=
NM_001128916.2:c.*247G= NP_001122388.1:n.*247G=
NM_001128917.1:c.*247G= NP_001122389.1:n.*247G=
NM_006114.2:c.*247G= NP_006105.1:n.*247G=
NM_006114.3:c.*247G= NP_006105.1:n.*247G=
ENST00000252487.9:c.*247G= ENSP00000252487.4:n.*247G=
ENST00000405636.6:c.*247G= ENSP00000385184.2:n.*247G=
ENST00000426677.6:c.*247G= ENSP00000410339.1:n.*247G=
ENST00000592434.5:c.*2062G= ENSP00000466084.1:n.*2062G=