Canonical Allele Identifier: CA355677970

Gene: EHHADH

Linked Data

• MyVariant Identifiers: chr3:g.184971758T>A (hg19) ; chr3:g.185253970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253970T>A , CM000665.2:g.185253970T>A	GRCh38
NC_000003.11:g.184971758T>A , CM000665.1:g.184971758T>A	GRCh37
NC_000003.10:g.186454452T>A	NCBI36
NG_015999.1:g.5129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.53A>T MANE Select	ENSP00000231887.3:p.Asn18Ile
ENST00000231887.7:c.53A>T	ENSP00000231887.3:p.Asn18Ile
ENST00000440662.1:c.53A>T	ENSP00000396798.1:p.Asn18Ile
ENST00000456310.5:c.-359A>T	ENSP00000387746.1:n.-359A>T
ENST00000465178.1:n.228-5453A>T
ENST00000475987.1:n.80A>T
NM_001166415.1:c.-359A>T	NP_001159887.1:n.-359A>T
NM_001966.3:c.53A>T	NP_001957.2:p.Asn18Ile
XM_006713525.1:c.-603A>T	XP_006713588.1:n.-603A>T
XM_011512517.1:c.-214-5453A>T	XP_011510819.1:n.-214-5453A>T
NM_001966.4:c.53A>T MANE Select	NP_001957.2:p.Asn18Ile
NM_001166415.2:c.-359A>T	NP_001159887.1:n.-359A>T