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Canonical Allele Identifier:
CA11580158
Gene: TBC1D5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.18269920G>A
GRCh37
chr3:g.18311412G>A
Linked Data - Sequence & Population
gnomAD v2:
3:18311412 G / A
gnomAD v3:
3:18269920 G / A
gnomAD v4:
chr3-18269920-G-A
Joint Max Group AF
0.91646763 (EAS)
Genomes Max Group AF
0.91646763 (EAS)
Linked Data - NCBI & NCI
dbSNP:
7641175
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.18269920G>A , CM000665.2:g.18269920G>A
GRCh38
NC_000003.11:g.18311412G>A , CM000665.1:g.18311412G>A
GRCh37
NC_000003.10:g.18286416G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000414318.2:n.211+174687C>T
Search 100 bp 5'
Search 100 bp 3'