Canonical Allele Identifier: CA100905177
Gene: PPM1K-DT HGNC NCBI

Linked Data

dbSNP Id: rs796942053
gnomAD v2: 4-89243795-A-G
gnomAD v3: 4-88322643-A-G
gnomAD v4: 4-88322643-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88322643A>G , CM000666.2:g.88322643A>G GRCh38
NC_000004.11:g.89243795A>G , CM000666.1:g.89243795A>G GRCh37
NC_000004.10:g.89462819A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_244670.3:n.641+3218A>G
XR_938963.1:n.641+3218A>G
NR_134236.1:n.425+3218A>G
NR_134237.1:n.349+3218A>G
NR_134238.1:n.330+5836A>G