Canonical Allele Identifier: CA9505817
Gene: TOMM40 HGNC NCBI
COSMIC:
COSN19635735 (not active)
MyVariant.info:
GRCh38 chr19:g.44901174T>C
GRCh37 chr19:g.45404431T>C
gnomAD v2:
19:45404431 T / C
gnomAD v3:
19:44901174 T / C
gnomAD v4:
chr19-44901174-T-C
Joint Max Group AF 0.63870346 (AFR)
Genomes Max Group AF 0.63793856 (AFR)
Exomes Max Group AF 0.63521967 (AFR)
dbSNP:
741780
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44901174T>C , CM000681.2:g.44901174T>C GRCh38
NC_000019.9:g.45404431T>C , CM000681.1:g.45404431T>C GRCh37
NC_000019.8:g.50096271T>C NCBI36
NG_007084.2:g.393T>C
NG_042854.1:g.14955T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426677.7:c.844-34T>C MANE Select ENSP00000410339.1:n.844-34T>C
ENST00000252487.9:c.844-34T>C ENSP00000252487.4:n.844-34T>C
ENST00000405636.6:c.844-34T>C ENSP00000385184.2:n.844-34T>C
ENST00000426677.6:c.844-34T>C ENSP00000410339.1:n.844-34T>C
ENST00000592041.1:c.360-34T>C
ENST00000592434.5:c.844-34T>C ENSP00000466084.1:n.844-34T>C
NM_001128916.1:c.844-34T>C NP_001122388.1:n.844-34T>C
NM_001128917.1:c.844-34T>C NP_001122389.1:n.844-34T>C
NM_006114.2:c.844-34T>C NP_006105.1:n.844-34T>C
XM_005258411.2:c.844-34T>C XP_005258468.1:n.844-34T>C
XM_005258411.4:c.844-34T>C XP_005258468.1:n.844-34T>C
NM_001128917.2:c.844-34T>C MANE Select NP_001122389.1:n.844-34T>C
NM_006114.3:c.844-34T>C NP_006105.1:n.844-34T>C
NM_001128916.2:c.844-34T>C NP_001122388.1:n.844-34T>C
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