Canonical Allele Identifier: CA2668886262

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185254089-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254089C>A , CM000665.2:g.185254089C>A	GRCh38
NC_000003.11:g.184971877C>A , CM000665.1:g.184971877C>A	GRCh37
NC_000003.10:g.186454571C>A	NCBI36
NG_015999.1:g.5010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.7:c.-67G>T	ENSP00000231887.3:n.-67G>T
ENST00000465178.1:n.228-5572G>T
NM_001166415.1:c.-478G>T	NP_001159887.1:n.-478G>T
NM_001966.3:c.-67G>T	NP_001957.2:n.-67G>T
XM_011512517.1:c.-214-5572G>T	XP_011510819.1:n.-214-5572G>T