Canonical Allele Identifier: CA406295827

Gene: TOMM40

Linked Data

• gnomAD v4: 19-44892423-A-G
• MyVariant Identifiers: chr19:g.45395680A>G (hg19) ; chr19:g.44892423A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44892423A>G , CM000681.2:g.44892423A>G	GRCh38
NC_000019.9:g.45395680A>G , CM000681.1:g.45395680A>G	GRCh37
NC_000019.8:g.50087520A>G	NCBI36
NG_042854.1:g.6204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426677.7:c.305A>G MANE Select	ENSP00000410339.1:p.Lys102Arg
ENST00000252487.9:c.305A>G	ENSP00000252487.4:p.Lys102Arg
ENST00000405636.6:c.305A>G	ENSP00000385184.2:p.Lys102Arg
ENST00000426677.6:c.305A>G	ENSP00000410339.1:p.Lys102Arg
ENST00000589649.1:c.305A>G	ENSP00000465032.1:p.Lys102Arg
ENST00000592434.5:c.305A>G	ENSP00000466084.1:p.Lys102Arg
NM_001128916.1:c.305A>G	NP_001122388.1:p.Lys102Arg
NM_001128917.1:c.305A>G	NP_001122389.1:p.Lys102Arg
NM_006114.2:c.305A>G	NP_006105.1:p.Lys102Arg
XM_005258411.2:c.305A>G	XP_005258468.1:p.Lys102Arg
XM_005258411.4:c.305A>G	XP_005258468.1:p.Lys102Arg
NM_001128917.2:c.305A>G MANE Select	NP_001122389.1:p.Lys102Arg
NM_006114.3:c.305A>G	NP_006105.1:p.Lys102Arg
NM_001128916.2:c.305A>G	NP_001122388.1:p.Lys102Arg