Canonical Allele Identifier: CA10630520

Gene: TUSC3

Linked Data

• ClinVar Variation Id: 362333
• ClinVar RCV Id: RCV000353501 ; RCV002275016
• dbSNP Id: rs190430215
• gnomAD v2: 8-15623196-A-G
• gnomAD v3: 8-15765687-A-G
• gnomAD v4: 8-15765687-A-G
• MyVariant Identifiers: chr8:g.15623196A>G (hg19) ; chr8:g.15765687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15765687A>G , CM000670.2:g.15765687A>G	GRCh38
NC_000008.10:g.15623196A>G , CM000670.1:g.15623196A>G	GRCh37
NC_000008.9:g.15667567A>G	NCBI36
NG_012141.2:g.230467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503731.6:c.*1531A>G MANE Select	ENSP00000424544.1:n.*1531A>G
ENST00000382020.8:c.*1469A>G	ENSP00000371450.4:n.*1469A>G
NM_006765.3:c.*1531A>G	NP_006756.2:n.*1531A>G
NM_178234.2:c.*1469A>G	NP_839952.1:n.*1469A>G
NM_006765.4:c.*1531A>G MANE Select	NP_006756.2:n.*1531A>G