Canonical Allele Identifier: CA249894
Gene: STT3A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.125618475T>C
GRCh37 chr11:g.125488370T>C
Revel Score:
ENST00000392708 (MANE Select) 0.953
ENST00000529196 0.953
ENST00000531491 0.953
gnomAD v4:
chr11-125618475-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000088679
RCV003556159
ClinVar Variation:
102443
dbSNP:
587777216
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125618475T>C , CM000673.2:g.125618475T>C GRCh38
NC_000011.9:g.125488370T>C , CM000673.1:g.125488370T>C GRCh37
NC_000011.8:g.124993580T>C NCBI36
NG_042806.1:g.30681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392708.9:c.1877T>C MANE Select ENSP00000376472.3:p.Val626Ala
ENST00000649491.1:c.1877T>C ENSP00000497336.1:p.Val626Ala
ENST00000392708.8:c.1877T>C ENSP00000376472.3:p.Val626Ala
ENST00000525946.5:n.726T>C
ENST00000529196.5:c.1877T>C ENSP00000436962.1:p.Val626Ala
ENST00000531491.5:c.1601T>C ENSP00000432820.1:p.Val534Ala
NM_001278503.1:c.1877T>C NP_001265432.1:p.Val626Ala
NM_001278504.1:c.1601T>C NP_001265433.1:p.Val534Ala
NM_152713.4:c.1877T>C NP_689926.1:p.Val626Ala
XM_011542807.1:c.1877T>C XP_011541109.1:p.Val626Ala
XM_011542807.3:c.1877T>C XP_011541109.1:p.Val626Ala
XR_001747860.2:n.2055T>C
NM_001278503.2:c.1877T>C NP_001265432.1:p.Val626Ala
NM_001278504.2:c.1601T>C NP_001265433.1:p.Val534Ala
NM_152713.5:c.1877T>C MANE Select NP_689926.1:p.Val626Ala
Search 100 bp 5'
Search 100 bp 3'