Canonical Allele Identifier: CA2759742113
Gene: EHHADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254206C>T , CM000665.2:g.185254206C>T GRCh38
NC_000003.11:g.184971994C>T , CM000665.1:g.184971994C>T GRCh37
NC_000003.10:g.186454688C>T NCBI36
NG_015999.1:g.4893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5689G>A
XM_011512517.1:c.-214-5689G>A XP_011510819.1:n.-214-5689G>A