Canonical Allele Identifier: CA10625063

Gene: TUSC3

Linked Data

• ClinVar Variation Id: 362334
• ClinVar RCV Id: RCV000260887 ; RCV003437136
• dbSNP Id: rs562496423
• gnomAD v2: 8-15623330-T-C
• gnomAD v3: 8-15765821-T-C
• gnomAD v4: 8-15765821-T-C
• MyVariant Identifiers: chr8:g.15623330T>C (hg19) ; chr8:g.15765821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15765821T>C , CM000670.2:g.15765821T>C	GRCh38
NC_000008.10:g.15623330T>C , CM000670.1:g.15623330T>C	GRCh37
NC_000008.9:g.15667701T>C	NCBI36
NG_012141.2:g.230601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503731.6:c.*1665T>C MANE Select	ENSP00000424544.1:n.*1665T>C
ENST00000382020.8:c.*1603T>C	ENSP00000371450.4:n.*1603T>C
NM_006765.3:c.*1665T>C	NP_006756.2:n.*1665T>C
NM_178234.2:c.*1603T>C	NP_839952.1:n.*1603T>C
NM_006765.4:c.*1665T>C MANE Select	NP_006756.2:n.*1665T>C