Canonical Allele Identifier: CA9505600
Gene: TOMM40 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs157581

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44892457T>C , CM000681.2:g.44892457T>C GRCh38
NC_000019.9:g.45395714T>C , CM000681.1:g.45395714T>C GRCh37
NC_000019.8:g.50087554T>C NCBI36
NG_042854.1:g.6238T>C

Transcript Alleles

HGVS Amino-acid change
NM_001128916.1:c.339T>C VV NP_001122388.1:p.Phe113=
NM_001128917.1:c.339T>C VV NP_001122389.1:p.Phe113=
NM_006114.2:c.339T>C VV NP_006105.1:p.Phe113=
XM_005258411.2:c.339T>C XP_005258468.1:p.Phe113=
XM_005258411.4:c.339T>C XP_005258468.1:p.Phe113=
NM_001128917.2:c.339T>C VV MANE Preferred NP_001122389.1:p.Phe113=
ENST00000252487.9:c.339T>C ENSP00000252487.4:p.Phe113=
ENST00000405636.6:c.339T>C ENSP00000385184.2:p.Phe113=
ENST00000426677.6:c.339T>C ENSP00000410339.1:p.Phe113=
ENST00000589649.1:c.339T>C ENSP00000465032.1:p.Phe113=
ENST00000592434.5:c.339T>C ENSP00000466084.1:p.Phe113=