Canonical Allele Identifier: CA29785929
Gene: PDZK1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.145707383A>G
gnomAD v3:
1:145707383 A / G
gnomAD v4:
chr1-145707383-A-G
Joint Max Group AF 0.95555971 (AFR)
Genomes Max Group AF 0.95555333 (AFR)
Exomes Max Group AF 0.78511152 (NFE)
dbSNP:
1797052
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145707383A>G , CM000663.2:g.145707383A>G GRCh38
NG_050630.2:g.5819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000417171.5:c.-69T>C ENSP00000394485.1:n.-69T>C
ENST00000443667.1:c.-69T>C ENSP00000409291.1:n.-69T>C
ENST00000451928.6:c.-69T>C ENSP00000403422.2:n.-69T>C
XM_017001467.2:c.-553T>C XP_016856956.1:n.-553T>C
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