Canonical Allele Identifier: CA14487521
Gene: PPM1E HGNC NCBI

Linked Data

dbSNP Id: rs9303401
gnomAD v2: 17-56847945-C-T
gnomAD v3: 17-58770584-C-T
gnomAD v4: 17-58770584-C-T
MyVariant Identifiers: chr17:g.56847945C>T (hg19) chr17:g.58770584C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58770584C>T , CM000679.2:g.58770584C>T GRCh38
NC_000017.10:g.56847945C>T , CM000679.1:g.56847945C>T GRCh37
NC_000017.9:g.54202944C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000308249.4:c.464+14123C>T MANE Select ENSP00000312411.2:n.464+14123C>T
ENST00000308249.3:c.464+14123C>T ENSP00000312411.2:n.464+14123C>T
NM_014906.4:c.464+14123C>T NP_055721.3:n.464+14123C>T
NR_048561.1:n.593+14123C>T
NM_014906.5:c.464+14123C>T MANE Select NP_055721.3:n.464+14123C>T
Search 100 bp 5'
Search 100 bp 3'