Canonical Allele Identifier: CA155748622
Gene: TOMM7 HGNC NCBI

Linked Data

dbSNP Id: rs991770059
gnomAD v2: 7-22856487-C-G
gnomAD v3: 7-22816868-C-G
gnomAD v4: 7-22816868-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22816868C>G , CM000669.2:g.22816868C>G GRCh38
NC_000007.13:g.22856487C>G , CM000669.1:g.22856487C>G GRCh37
NC_000007.12:g.22823012C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358435.9:c.152+1132G>C MANE Select ENSP00000351214.4:n.152+1132G>C
ENST00000358435.8:c.152+1132G>C ENSP00000351214.4:n.152+1132G>C
ENST00000372879.8:c.289+544G>C ENSP00000361970.4:n.289+544G>C
ENST00000405021.7:c.140+1132G>C ENSP00000385203.3:n.140+1132G>C
ENST00000463284.2:n.174-3683G>C
ENST00000483581.1:n.336+1132G>C
NM_019059.3:c.152+1132G>C NP_061932.1:n.152+1132G>C
NM_019059.4:c.152+1132G>C NP_061932.1:n.152+1132G>C
NM_019059.5:c.152+1132G>C MANE Select NP_061932.1:n.152+1132G>C
NR_168014.1:n.178+1132G>C
NR_168015.1:n.130-3683G>C