Canonical Allele Identifier: CA2668886230

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253946-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253946T>G , CM000665.2:g.185253946T>G	GRCh38
NC_000003.11:g.184971734T>G , CM000665.1:g.184971734T>G	GRCh37
NC_000003.10:g.186454428T>G	NCBI36
NG_015999.1:g.5153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.74+3A>C MANE Select	ENSP00000231887.3:n.74+3A>C
ENST00000231887.7:c.74+3A>C	ENSP00000231887.3:n.74+3A>C
ENST00000440662.1:c.74+3A>C	ENSP00000396798.1:n.74+3A>C
ENST00000456310.5:c.-335A>C	ENSP00000387746.1:n.-335A>C
ENST00000465178.1:n.228-5429A>C
ENST00000475987.1:n.101+3A>C
NM_001166415.1:c.-335A>C	NP_001159887.1:n.-335A>C
NM_001966.3:c.74+3A>C	NP_001957.2:n.74+3A>C
XM_006713525.1:c.-582+3A>C	XP_006713588.1:n.-582+3A>C
XM_011512517.1:c.-214-5429A>C	XP_011510819.1:n.-214-5429A>C
NM_001966.4:c.74+3A>C MANE Select	NP_001957.2:n.74+3A>C
NM_001166415.2:c.-335A>C	NP_001159887.1:n.-335A>C