Canonical Allele Identifier: CA2665005616
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993220-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993220T>C , CM000665.2:g.36993220T>C GRCh38
NC_000003.11:g.37034711T>C , CM000665.1:g.37034711T>C GRCh37
NC_000003.10:g.37009715T>C NCBI36
NG_007109.2:g.4871T>C , LRG_216:g.4871T>C
NG_008418.1:g.5085A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-143A>G NP_055620.1:n.-143A>G