Canonical Allele Identifier: CA6646906

Gene: STAC3

Linked Data

• ClinVar Variation Id: 262571
• ClinVar RCV Id: RCV000251187 ; RCV000541777 ; RCV001731551
• dbSNP Id: rs61739642
• ExAC: 12:57637604 C / T
• gnomAD v2: 12-57637604-C-T
• gnomAD v3: 12-57243821-C-T
• gnomAD v4: 12-57243821-C-T
• MyVariant Identifiers: chr12:g.57637604C>T (hg19) ; chr12:g.57243821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57243821C>T , CM000674.2:g.57243821C>T	GRCh38
NC_000012.11:g.57637604C>T , CM000674.1:g.57637604C>T	GRCh37
NC_000012.10:g.55923871C>T	NCBI36
NG_033835.1:g.12373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332782.7:c.1086G>A MANE Select	ENSP00000329200.2:p.Glu362=
ENST00000332782.6:c.1086G>A	ENSP00000329200.2:p.Glu362=
ENST00000546246.2:c.528G>A	ENSP00000441515.2:p.Glu176=
ENST00000554578.5:c.969G>A	ENSP00000452068.1:p.Glu323=
ENST00000557176.5:c.*146G>A	ENSP00000450740.1:n.*146G>A
NM_001286256.1:c.969G>A	NP_001273185.1:p.Glu323=
NM_001286257.1:c.528G>A	NP_001273186.1:p.Glu176=
NM_145064.2:c.1086G>A	NP_659501.1:p.Glu362=
NR_104422.1:n.788G>A
XM_011538126.1:c.1086G>A	XP_011536428.1:p.Glu362=
XR_944515.1:n.1215G>A
XM_011538126.2:c.1086G>A	XP_011536428.1:p.Glu362=
XR_002957305.1:n.1385G>A
XR_944515.2:n.1215G>A
NM_145064.3:c.1086G>A MANE Select	NP_659501.1:p.Glu362=
NM_001286256.2:c.969G>A	NP_001273185.1:p.Glu323=
NM_001286257.2:c.528G>A	NP_001273186.1:p.Glu176=
NR_104422.2:n.782G>A