Canonical Allele Identifier: CA836784141
Gene: TOMM7 HGNC NCBI

Linked Data

dbSNP Id: rs1419590433
gnomAD v3: 7-22816982-G-A
gnomAD v4: 7-22816982-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22816982G>A , CM000669.2:g.22816982G>A GRCh38
NC_000007.13:g.22856601G>A , CM000669.1:g.22856601G>A GRCh37
NC_000007.12:g.22823126G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358435.9:c.152+1018C>T MANE Select ENSP00000351214.4:n.152+1018C>T
ENST00000358435.8:c.152+1018C>T ENSP00000351214.4:n.152+1018C>T
ENST00000372879.8:c.289+430C>T ENSP00000361970.4:n.289+430C>T
ENST00000405021.7:c.140+1018C>T ENSP00000385203.3:n.140+1018C>T
ENST00000463284.2:n.174-3797C>T
ENST00000483581.1:n.336+1018C>T
NM_019059.3:c.152+1018C>T NP_061932.1:n.152+1018C>T
NM_019059.4:c.152+1018C>T NP_061932.1:n.152+1018C>T
NM_019059.5:c.152+1018C>T MANE Select NP_061932.1:n.152+1018C>T
NR_168014.1:n.178+1018C>T
NR_168015.1:n.130-3797C>T