Canonical Allele Identifier: CA10630555
Gene: TUSC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 362309
ClinVar RCV Id: RCV000339980
dbSNP Id: rs886062771

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.15540433G>A , CM000670.2:g.15540433G>A GRCh38
NC_000008.10:g.15397942G>A , CM000670.1:g.15397942G>A GRCh37
NC_000008.9:g.15442313G>A NCBI36
NG_012141.2:g.5213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000503731.6:c.3G>A MANE Select ENSP00000424544.1:p.Met1Ile
ENST00000382020.8:c.3G>A ENSP00000371450.4:p.Met1Ile
ENST00000503191.5:n.189+56950G>A
ENST00000503731.5:c.3G>A ENSP00000424544.1:p.Met1Ile
ENST00000506802.5:c.3G>A ENSP00000425777.1:p.Met1Ile
ENST00000509380.5:c.3G>A ENSP00000423426.1:p.Met1Ile
ENST00000510836.5:c.3G>A ENSP00000426973.1:p.Met1Ile
ENST00000515859.5:c.3G>A ENSP00000420829.1:p.Met1Ile
NM_006765.3:c.3G>A NP_006756.2:p.Met1Ile
NM_178234.2:c.3G>A NP_839952.1:p.Met1Ile
NM_001356429.1:c.3G>A NP_001343358.1:p.Met1Ile
NM_001356429.2:c.3G>A NP_001343358.1:p.Met1Ile
NM_006765.4:c.3G>A MANE Select NP_006756.2:p.Met1Ile