Canonical Allele Identifier: CA12792607
Gene: TPD52 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.80183160C>T
GRCh37 chr8:g.81095395C>T
gnomAD v2:
8:81095395 C / T
gnomAD v3:
8:80183160 C / T
gnomAD v4:
chr8-80183160-C-T
Joint Max Group AF 0.89065477 (AFR)
Genomes Max Group AF 0.89065477 (AFR)
Exomes Max Group AF 0.13628107 (NFE)
dbSNP:
998731
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80183160C>T , CM000670.2:g.80183160C>T GRCh38
NC_000008.10:g.81095395C>T , CM000670.1:g.81095395C>T GRCh37
NC_000008.9:g.81257950C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000519250.5:n.235+35309G>A
ENST00000520035.5:n.176-4881G>A
ENST00000523564.2:n.63-22G>A
ENST00000602950.1:n.223-22G>A
XR_929092.1:n.557-22G>A
XR_929093.1:n.557-22G>A
XR_929095.1:n.557-22G>A
XR_929092.2:n.590-22G>A
XR_929093.2:n.590-22G>A
XR_929095.2:n.591-22G>A
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