Canonical Allele Identifier: CA4640695

Gene: TUSC3

Linked Data

• ClinVar Variation Id: 1589506
• ClinVar RCV Id: RCV002119405
• dbSNP Id: rs187670751
• ExAC: 8:15605985 T / C
• gnomAD v2: 8-15605985-T-C
• gnomAD v3: 8-15748476-T-C
• gnomAD v4: 8-15748476-T-C
• MyVariant Identifiers: chr8:g.15605985T>C (hg19) ; chr8:g.15748476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15748476T>C , CM000670.2:g.15748476T>C	GRCh38
NC_000008.10:g.15605985T>C , CM000670.1:g.15605985T>C	GRCh37
NC_000008.9:g.15650356T>C	NCBI36
NG_012141.2:g.213256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503731.6:c.1028+11T>C MANE Select	ENSP00000424544.1:n.1028+11T>C
ENST00000382020.8:c.1028+11T>C	ENSP00000371450.4:n.1028+11T>C
ENST00000503731.5:c.1028+11T>C	ENSP00000424544.1:n.1028+11T>C
ENST00000506802.5:c.937+4864T>C	ENSP00000425777.1:n.937+4864T>C
ENST00000507316.1:n.260+11T>C
ENST00000508446.1:n.241+4864T>C
ENST00000510836.5:c.*42+4864T>C	ENSP00000426973.1:n.*42+4864T>C
ENST00000511342.1:n.185T>C
ENST00000511783.2:c.890+11T>C	ENSP00000426880.2:n.890+11T>C
ENST00000515859.5:c.*133+11T>C	ENSP00000420829.1:n.*133+11T>C
NM_006765.3:c.1028+11T>C	NP_006756.2:n.1028+11T>C
NM_178234.2:c.1028+11T>C	NP_839952.1:n.1028+11T>C
XM_011544651.1:c.860+11T>C	XP_011542953.1:n.860+11T>C
XM_011544652.1:c.860+11T>C	XP_011542954.1:n.860+11T>C
XM_011544653.1:c.860+11T>C	XP_011542955.1:n.860+11T>C
XM_011544654.1:c.769+4864T>C	XP_011542956.1:n.769+4864T>C
NM_001356429.1:c.1028+11T>C	NP_001343358.1:n.1028+11T>C
XM_011544651.3:c.860+11T>C	XP_011542953.1:n.860+11T>C
XM_017013861.2:c.860+11T>C	XP_016869350.1:n.860+11T>C
NM_001356429.2:c.1028+11T>C	NP_001343358.1:n.1028+11T>C
NM_006765.4:c.1028+11T>C MANE Select	NP_006756.2:n.1028+11T>C