Canonical Allele Identifier: CA507797985

Gene: TOMM40

Linked Data

• dbSNP Id: rs1369936390
• gnomAD v2: 19-45395684-C-T
• gnomAD v4: 19-44892427-C-T
• MyVariant Identifiers: chr19:g.45395684C>T (hg19) ; chr19:g.44892427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44892427C>T , CM000681.2:g.44892427C>T	GRCh38
NC_000019.9:g.45395684C>T , CM000681.1:g.45395684C>T	GRCh37
NC_000019.8:g.50087524C>T	NCBI36
NG_042854.1:g.6208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426677.7:c.309C>T MANE Select	ENSP00000410339.1:p.Leu103=
ENST00000252487.9:c.309C>T	ENSP00000252487.4:p.Leu103=
ENST00000405636.6:c.309C>T	ENSP00000385184.2:p.Leu103=
ENST00000426677.6:c.309C>T	ENSP00000410339.1:p.Leu103=
ENST00000589649.1:c.309C>T	ENSP00000465032.1:p.Leu103=
ENST00000592434.5:c.309C>T	ENSP00000466084.1:p.Leu103=
NM_001128916.1:c.309C>T	NP_001122388.1:p.Leu103=
NM_001128917.1:c.309C>T	NP_001122389.1:p.Leu103=
NM_006114.2:c.309C>T	NP_006105.1:p.Leu103=
XM_005258411.2:c.309C>T	XP_005258468.1:p.Leu103=
XM_005258411.4:c.309C>T	XP_005258468.1:p.Leu103=
NM_001128917.2:c.309C>T MANE Select	NP_001122389.1:p.Leu103=
NM_006114.3:c.309C>T	NP_006105.1:p.Leu103=
NM_001128916.2:c.309C>T	NP_001122388.1:p.Leu103=