Canonical Allele Identifier: CA552869895
Gene: PPM1K-DT HGNC NCBI

Linked Data

dbSNP Id: rs1180540927
gnomAD v2: 4-89243685-T-C
gnomAD v3: 4-88322533-T-C
gnomAD v4: 4-88322533-T-C
MyVariant Identifiers: chr4:g.89243685T>C (hg19) chr4:g.88322533T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88322533T>C , CM000666.2:g.88322533T>C GRCh38
NC_000004.11:g.89243685T>C , CM000666.1:g.89243685T>C GRCh37
NC_000004.10:g.89462709T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_244670.3:n.641+3108T>C
XR_938963.1:n.641+3108T>C
NR_134236.1:n.425+3108T>C
NR_134237.1:n.349+3108T>C
NR_134238.1:n.330+5726T>C
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