Canonical Allele Identifier: CA2665005568
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993191-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993191G>T , CM000665.2:g.36993191G>T GRCh38
NC_000003.11:g.37034682G>T , CM000665.1:g.37034682G>T GRCh37
NC_000003.10:g.37009686G>T NCBI36
NG_007109.2:g.4842G>T , LRG_216:g.4842G>T
NG_008418.1:g.5114C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-114C>A NP_055620.1:n.-114C>A