Canonical Allele Identifier: CA920117731
Gene: TOMM40 HGNC NCBI
gnomAD v3:
19:44899791 C / CTTTTTTT
gnomAD v4:
chr19-44899791-C-CTTTTTTT
Joint Max Group AF 0.00193354 (NFE)
Genomes Max Group AF 0.00193354 (NFE)
dbSNP:
10524523
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44899820_44899826dup , CM000681.2:g.44899820_44899826dup GRCh38
NC_000019.9:g.45403077_45403083dup , CM000681.1:g.45403077_45403083dup GRCh37
NC_000019.8:g.50094917_50094923dup NCBI36
NG_042854.1:g.13601_13607dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426677.7:c.644-910_644-904dup MANE Select ENSP00000410339.1:n.644-910_644-904dup
ENST00000252487.9:c.644-910_644-904dup ENSP00000252487.4:n.644-910_644-904dup
ENST00000405636.6:c.644-910_644-904dup ENSP00000385184.2:n.644-910_644-904dup
ENST00000426677.6:c.644-910_644-904dup ENSP00000410339.1:n.644-910_644-904dup
ENST00000592041.1:c.160-910_160-904dup
ENST00000592434.5:c.644-910_644-904dup ENSP00000466084.1:n.644-910_644-904dup
NM_001128916.1:c.644-910_644-904dup NP_001122388.1:n.644-910_644-904dup
NM_001128917.1:c.644-910_644-904dup NP_001122389.1:n.644-910_644-904dup
NM_006114.2:c.644-910_644-904dup NP_006105.1:n.644-910_644-904dup
XM_005258411.2:c.644-910_644-904dup XP_005258468.1:n.644-910_644-904dup
XM_005258411.4:c.644-910_644-904dup XP_005258468.1:n.644-910_644-904dup
NM_001128917.2:c.644-910_644-904dup MANE Select NP_001122389.1:n.644-910_644-904dup
NM_006114.3:c.644-910_644-904dup NP_006105.1:n.644-910_644-904dup
NM_001128916.2:c.644-910_644-904dup NP_001122388.1:n.644-910_644-904dup
Search 100 bp 5'
Search 100 bp 3'