ClinGen Allele Registry
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Canonical Allele Identifier:
CA12959977
Gene: TLE1-DT
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.81694033G>A
GRCh37
chr9:g.84308948G>A
Linked Data - Sequence & Population
gnomAD v2:
9:84308948 G / A
gnomAD v3:
9:81694033 G / A
gnomAD v4:
chr9-81694033-G-A
Joint Max Group AF
0.59871298 (EAS)
Genomes Max Group AF
0.59871298 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2796441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.81694033G>A , CM000671.2:g.81694033G>A
GRCh38
NC_000009.11:g.84308948G>A , CM000671.1:g.84308948G>A
GRCh37
NC_000009.10:g.83498768G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109772.1:n.247+4074G>A
Search 100 bp 5'
Search 100 bp 3'