Canonical Allele Identifier: CA6646959
Gene: STAC3 HGNC NCBI
gnomAD v2:
12:57638005 T / A
gnomAD v3:
12:57244222 T / A
gnomAD v4:
chr12-57244222-T-A
Joint Max Group AF 0.00005433 (AMR)
Genomes Max Group AF 0.00014678 (NFE)
Exomes Max Group AF 0.00007281 (AMR)
ClinVar Allele:
413341
ClinVar RCV:
RCV000487670
RCV000677630
RCV001267514
ClinVar Variation:
425007
dbSNP:
371720347
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57244222T>A , CM000674.2:g.57244222T>A GRCh38
NC_000012.11:g.57638005T>A , CM000674.1:g.57638005T>A GRCh37
NC_000012.10:g.55924272T>A NCBI36
NG_033835.1:g.11972A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332782.7:c.862A>T MANE Select ENSP00000329200.2:p.Lys288Ter
ENST00000332782.6:c.862A>T ENSP00000329200.2:p.Lys288Ter
ENST00000546246.2:c.304A>T ENSP00000441515.2:p.Lys102Ter
ENST00000554578.5:c.745A>T ENSP00000452068.1:p.Lys249Ter
ENST00000557176.5:c.237A>T ENSP00000450740.1:p.Gly79=
NM_001286256.1:c.745A>T NP_001273185.1:p.Lys249Ter
NM_001286257.1:c.304A>T NP_001273186.1:p.Lys102Ter
NM_145064.2:c.862A>T NP_659501.1:p.Lys288Ter
NR_104422.1:n.564A>T
XM_011538126.1:c.862A>T XP_011536428.1:p.Lys288Ter
XR_944515.1:n.991A>T
XM_011538126.2:c.862A>T XP_011536428.1:p.Lys288Ter
XR_002957305.1:n.1161A>T
XR_944515.2:n.991A>T
NM_145064.3:c.862A>T MANE Select NP_659501.1:p.Lys288Ter
NM_001286256.2:c.745A>T NP_001273185.1:p.Lys249Ter
NM_001286257.2:c.304A>T NP_001273186.1:p.Lys102Ter
NR_104422.2:n.558A>T
Search 100 bp 5'
Search 100 bp 3'