Canonical Allele Identifier: CA2665005585
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993200-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993200C>A , CM000665.2:g.36993200C>A GRCh38
NC_000003.11:g.37034691C>A , CM000665.1:g.37034691C>A GRCh37
NC_000003.10:g.37009695C>A NCBI36
NG_007109.2:g.4851C>A , LRG_216:g.4851C>A
NG_008418.1:g.5105G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-123G>T NP_055620.1:n.-123G>T