Canonical Allele Identifier: CA573331469

Gene: TOMM7

Linked Data

• dbSNP Id: rs1278383784
• gnomAD v2: 7-22856489-G-A
• gnomAD v3: 7-22816870-G-A
• gnomAD v4: 7-22816870-G-A
• MyVariant Identifiers: chr7:g.22856489G>A (hg19) ; chr7:g.22816870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.22816870G>A , CM000669.2:g.22816870G>A	GRCh38
NC_000007.13:g.22856489G>A , CM000669.1:g.22856489G>A	GRCh37
NC_000007.12:g.22823014G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358435.9:c.152+1130C>T MANE Select	ENSP00000351214.4:n.152+1130C>T
ENST00000358435.8:c.152+1130C>T	ENSP00000351214.4:n.152+1130C>T
ENST00000372879.8:c.289+542C>T	ENSP00000361970.4:n.289+542C>T
ENST00000405021.7:c.140+1130C>T	ENSP00000385203.3:n.140+1130C>T
ENST00000463284.2:n.174-3685C>T
ENST00000483581.1:n.336+1130C>T
NM_019059.3:c.152+1130C>T	NP_061932.1:n.152+1130C>T
NM_019059.4:c.152+1130C>T	NP_061932.1:n.152+1130C>T
NM_019059.5:c.152+1130C>T MANE Select	NP_061932.1:n.152+1130C>T
NR_168014.1:n.178+1130C>T
NR_168015.1:n.130-3685C>T