Canonical Allele Identifier: CA2668886346
Gene: EHHADH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254161C>T , CM000665.2:g.185254161C>T GRCh38
NC_000003.11:g.184971949C>T , CM000665.1:g.184971949C>T GRCh37
NC_000003.10:g.186454643C>T NCBI36
NG_015999.1:g.4938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5644G>A
XM_011512517.1:c.-214-5644G>A XP_011510819.1:n.-214-5644G>A