Canonical Allele Identifier: CA2665005590
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993203-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993203G>T , CM000665.2:g.36993203G>T GRCh38
NC_000003.11:g.37034694G>T , CM000665.1:g.37034694G>T GRCh37
NC_000003.10:g.37009698G>T NCBI36
NG_007109.2:g.4854G>T , LRG_216:g.4854G>T
NG_008418.1:g.5102C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-126C>A NP_055620.1:n.-126C>A