Canonical Allele Identifier: CA2755849244
Gene: EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993167C>A , CM000665.2:g.36993167C>A GRCh38
NC_000003.11:g.37034658C>A , CM000665.1:g.37034658C>A GRCh37
NC_000003.10:g.37009662C>A NCBI36
NG_007109.2:g.4818C>A , LRG_216:g.4818C>A
NG_008418.1:g.5138G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322716.7:c.-90G>T ENSP00000406027.1:n.-90G>T
NM_014805.3:c.-90G>T NP_055620.1:n.-90G>T