Canonical Allele Identifier: CA2577981607

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185254030-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254030C>T , CM000665.2:g.185254030C>T	GRCh38
NC_000003.11:g.184971818C>T , CM000665.1:g.184971818C>T	GRCh37
NC_000003.10:g.186454512C>T	NCBI36
NG_015999.1:g.5069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.-8G>A MANE Select	ENSP00000231887.3:n.-8G>A
ENST00000231887.7:c.-8G>A	ENSP00000231887.3:n.-8G>A
ENST00000440662.1:c.-8G>A	ENSP00000396798.1:n.-8G>A
ENST00000456310.5:c.-419G>A	ENSP00000387746.1:n.-419G>A
ENST00000465178.1:n.228-5513G>A
ENST00000475987.1:n.20G>A
NM_001166415.1:c.-419G>A	NP_001159887.1:n.-419G>A
NM_001966.3:c.-8G>A	NP_001957.2:n.-8G>A
XM_006713525.1:c.-663G>A	XP_006713588.1:n.-663G>A
XM_011512517.1:c.-214-5513G>A	XP_011510819.1:n.-214-5513G>A
NM_001966.4:c.-8G>A MANE Select	NP_001957.2:n.-8G>A
NM_001166415.2:c.-419G>A	NP_001159887.1:n.-419G>A