Canonical Allele Identifier: CA148534

Gene: TUSC3

Linked Data

• ClinVar Variation Id: 95431
• ClinVar RCV Id: RCV000081455 ; RCV000365457 ; RCV000836234 ; RCV001082048 ; RCV002311641 ; RCV003925068
• dbSNP Id: rs17121892
• ExAC: 8:15601096 G / A
• gnomAD v2: 8-15601096-G-A
• gnomAD v3: 8-15743587-G-A
• gnomAD v4: 8-15743587-G-A
• MyVariant Identifiers: chr8:g.15601096G>A (hg19) ; chr8:g.15743587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15743587G>A , CM000670.2:g.15743587G>A	GRCh38
NC_000008.10:g.15601096G>A , CM000670.1:g.15601096G>A	GRCh37
NC_000008.9:g.15645467G>A	NCBI36
NG_012141.2:g.208367G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000503731.6:c.912G>A MANE Select	ENSP00000424544.1:p.Ser304=
ENST00000382020.8:c.912G>A	ENSP00000371450.4:p.Ser304=
ENST00000503731.5:c.912G>A	ENSP00000424544.1:p.Ser304=
ENST00000506802.5:c.912G>A	ENSP00000425777.1:p.Ser304=
ENST00000507316.1:n.144G>A
ENST00000508446.1:n.216G>A
ENST00000510836.5:c.*17G>A	ENSP00000426973.1:n.*17G>A
ENST00000511342.1:n.58G>A
ENST00000511783.2:c.774G>A	ENSP00000426880.2:p.Ser258=
ENST00000515859.5:c.*17G>A	ENSP00000420829.1:n.*17G>A
NM_006765.3:c.912G>A	NP_006756.2:p.Ser304=
NM_178234.2:c.912G>A	NP_839952.1:p.Ser304=
XM_011544651.1:c.744G>A	XP_011542953.1:p.Ser248=
XM_011544652.1:c.744G>A	XP_011542954.1:p.Ser248=
XM_011544653.1:c.744G>A	XP_011542955.1:p.Ser248=
XM_011544654.1:c.744G>A	XP_011542956.1:p.Ser248=
NM_001356429.1:c.912G>A	NP_001343358.1:p.Ser304=
XM_011544651.3:c.744G>A	XP_011542953.1:p.Ser248=
XM_017013861.2:c.744G>A	XP_016869350.1:p.Ser248=
NM_001356429.2:c.912G>A	NP_001343358.1:p.Ser304=
NM_006765.4:c.912G>A MANE Select	NP_006756.2:p.Ser304=