Canonical Allele Identifier: CA14662612
Gene: TOMM40 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44903416G>A
GRCh37 chr19:g.45406673G>A
gnomAD v2:
19:45406673 G / A
gnomAD v3:
19:44903416 G / A
gnomAD v4:
chr19-44903416-G-A
Joint Max Group AF 0.32466039 (AFR)
Genomes Max Group AF 0.32344328 (AFR)
Exomes Max Group AF 0.32307609 (AFR)
dbSNP:
10119
JSON-LD

Genomic Alleles

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

Transcript Alleles

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