Canonical Allele Identifier: CA1426396608

Gene: EHHADH

Linked Data

• dbSNP Id: rs781744050
• gnomAD v4: 3-185254066-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254066C>T , CM000665.2:g.185254066C>T	GRCh38
NC_000003.11:g.184971854C>T , CM000665.1:g.184971854C>T	GRCh37
NC_000003.10:g.186454548C>T	NCBI36
NG_015999.1:g.5033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.7:c.-44G>A	ENSP00000231887.3:n.-44G>A
ENST00000465178.1:n.228-5549G>A
NM_001166415.1:c.-455G>A	NP_001159887.1:n.-455G>A
NM_001966.3:c.-44G>A	NP_001957.2:n.-44G>A
XM_011512517.1:c.-214-5549G>A	XP_011510819.1:n.-214-5549G>A