Canonical Allele Identifier: CA155748621
Gene: TOMM7 HGNC NCBI

Linked Data

dbSNP Id: rs1042620546
gnomAD v2: 7-22856485-C-T
gnomAD v3: 7-22816866-C-T
gnomAD v4: 7-22816866-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22816866C>T , CM000669.2:g.22816866C>T GRCh38
NC_000007.13:g.22856485C>T , CM000669.1:g.22856485C>T GRCh37
NC_000007.12:g.22823010C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358435.9:c.152+1134G>A MANE Select ENSP00000351214.4:n.152+1134G>A
ENST00000358435.8:c.152+1134G>A ENSP00000351214.4:n.152+1134G>A
ENST00000372879.8:c.289+546G>A ENSP00000361970.4:n.289+546G>A
ENST00000405021.7:c.140+1134G>A ENSP00000385203.3:n.140+1134G>A
ENST00000463284.2:n.174-3681G>A
ENST00000483581.1:n.336+1134G>A
NM_019059.3:c.152+1134G>A NP_061932.1:n.152+1134G>A
NM_019059.4:c.152+1134G>A NP_061932.1:n.152+1134G>A
NM_019059.5:c.152+1134G>A MANE Select NP_061932.1:n.152+1134G>A
NR_168014.1:n.178+1134G>A
NR_168015.1:n.130-3681G>A