Canonical Allele Identifier: CA14644148

Gene: TOMM40

Linked Data

• dbSNP Id: rs157580
• gnomAD v2: 19-45395266-G-A
• gnomAD v3: 19-44892009-G-A
• gnomAD v4: 19-44892009-G-A
• MyVariant Identifiers: chr19:g.45395266G>A (hg19) ; chr19:g.44892009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44892009G>A , CM000681.2:g.44892009G>A	GRCh38
NC_000019.9:g.45395266G>A , CM000681.1:g.45395266G>A	GRCh37
NC_000019.8:g.50087106G>A	NCBI36
NG_042854.1:g.5790G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426677.7:c.274+320G>A MANE Select	ENSP00000410339.1:n.274+320G>A
ENST00000252487.9:c.274+320G>A	ENSP00000252487.4:n.274+320G>A
ENST00000405636.6:c.274+320G>A	ENSP00000385184.2:n.274+320G>A
ENST00000426677.6:c.274+320G>A	ENSP00000410339.1:n.274+320G>A
ENST00000589649.1:c.274+320G>A	ENSP00000465032.1:n.274+320G>A
ENST00000592434.5:c.274+320G>A	ENSP00000466084.1:n.274+320G>A
NM_001128916.1:c.274+320G>A	NP_001122388.1:n.274+320G>A
NM_001128917.1:c.274+320G>A	NP_001122389.1:n.274+320G>A
NM_006114.2:c.274+320G>A	NP_006105.1:n.274+320G>A
XM_005258411.2:c.274+320G>A	XP_005258468.1:n.274+320G>A
XM_005258411.4:c.274+320G>A	XP_005258468.1:n.274+320G>A
NM_001128917.2:c.274+320G>A MANE Select	NP_001122389.1:n.274+320G>A
NM_006114.3:c.274+320G>A	NP_006105.1:n.274+320G>A
NM_001128916.2:c.274+320G>A	NP_001122388.1:n.274+320G>A