Canonical Allele Identifier: CA1426396549

Gene: EHHADH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253974G= , CM000665.2:g.185253974G=	GRCh38
NC_000003.11:g.184971762G= , CM000665.1:g.184971762G=	GRCh37
NC_000003.10:g.186454456G=	NCBI36
NG_015999.1:g.5125C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.49C= MANE Select	ENSP00000231887.3:p.Arg17=
ENST00000231887.7:c.49C=	ENSP00000231887.3:p.Arg17=
ENST00000440662.1:c.49C=	ENSP00000396798.1:p.Arg17=
ENST00000456310.5:c.-363C=	ENSP00000387746.1:n.-363C=
ENST00000465178.1:n.228-5457C=
ENST00000475987.1:n.76C=
NM_001166415.1:c.-363C=	NP_001159887.1:n.-363C=
NM_001966.3:c.49C=	NP_001957.2:p.Arg17=
XM_006713525.1:c.-607C=	XP_006713588.1:n.-607C=
XM_011512517.1:c.-214-5457C=	XP_011510819.1:n.-214-5457C=
NM_001966.4:c.49C= MANE Select	NP_001957.2:p.Arg17=
NM_001166415.2:c.-363C=	NP_001159887.1:n.-363C=