Canonical Allele Identifier: CA13525648
Gene: STT3A-AS1 HGNC NCBI
FEZ1 HGNC NCBI
STT3A HGNC NCBI
gnomAD v2:
11:125461709 A / G
gnomAD v3:
11:125591814 A / G
gnomAD v4:
chr11-125591814-A-G
Joint Max Group AF 0.91982279 (SAS)
Genomes Max Group AF 0.91914754 (SAS)
Exomes Max Group AF 0.77500538 (SAS)
dbSNP:
548181
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125591814A>G , CM000673.2:g.125591814A>G GRCh38
NC_000011.9:g.125461709A>G , CM000673.1:g.125461709A>G GRCh37
NC_000011.8:g.124966919A>G NCBI36
NG_042806.1:g.4020A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530526.1:n.151+604T>C (STT3A-AS1)
ENST00000648911.1:c.-259+604T>C (FEZ1) ENSP00000497070.1:n.-259+604T>C
ENST00000527606.5:c.-109A>G (STT3A) ENSP00000436558.1:n.-109A>G
NR_132372.1:n.151+604T>C (STT3A-AS1)
XR_948139.1:n.218+604T>C (STT3A-AS1)
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