Canonical Allele Identifier: CA2665005577
Gene: EPM2AIP1 HGNC NCBI

Linked Data

gnomAD v4: 3-36993197-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993197A>C , CM000665.2:g.36993197A>C GRCh38
NC_000003.11:g.37034688A>C , CM000665.1:g.37034688A>C GRCh37
NC_000003.10:g.37009692A>C NCBI36
NG_007109.2:g.4848A>C , LRG_216:g.4848A>C
NG_008418.1:g.5108T>G

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-120T>G NP_055620.1:n.-120T>G
Search 100 bp 5'
Search 100 bp 3'