Canonical Allele Identifier: CA9505817

Gene: TOMM40

Linked Data

• dbSNP Id: rs741780
• ExAC: 19:45404431 T / C
• gnomAD v2: 19-45404431-T-C
• gnomAD v3: 19-44901174-T-C
• gnomAD v4: 19-44901174-T-C
• MyVariant Identifiers: chr19:g.45404431T>C (hg19) ; chr19:g.44901174T>C (hg38)

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