Canonical Allele Identifier: CA1099301798
Gene: TOMM7 HGNC NCBI

Linked Data

dbSNP Id: rs1782323653
gnomAD v3: 7-22816946-T-G
gnomAD v4: 7-22816946-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22816946T>G , CM000669.2:g.22816946T>G GRCh38
NC_000007.13:g.22856565T>G , CM000669.1:g.22856565T>G GRCh37
NC_000007.12:g.22823090T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358435.9:c.152+1054A>C MANE Select ENSP00000351214.4:n.152+1054A>C
ENST00000358435.8:c.152+1054A>C ENSP00000351214.4:n.152+1054A>C
ENST00000372879.8:c.289+466A>C ENSP00000361970.4:n.289+466A>C
ENST00000405021.7:c.140+1054A>C ENSP00000385203.3:n.140+1054A>C
ENST00000463284.2:n.174-3761A>C
ENST00000483581.1:n.336+1054A>C
NM_019059.3:c.152+1054A>C NP_061932.1:n.152+1054A>C
NM_019059.4:c.152+1054A>C NP_061932.1:n.152+1054A>C
NM_019059.5:c.152+1054A>C MANE Select NP_061932.1:n.152+1054A>C
NR_168014.1:n.178+1054A>C
NR_168015.1:n.130-3761A>C