Canonical Allele Identifier: CA2577544999
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993165-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993165C>T , CM000665.2:g.36993165C>T GRCh38
NC_000003.11:g.37034656C>T , CM000665.1:g.37034656C>T GRCh37
NC_000003.10:g.37009660C>T NCBI36
NG_007109.2:g.4816C>T , LRG_216:g.4816C>T
NG_008418.1:g.5140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322716.7:c.-88G>A ENSP00000406027.1:n.-88G>A
NM_014805.3:c.-88G>A NP_055620.1:n.-88G>A
Search 100 bp 5'
Search 100 bp 3'