Canonical Allele Identifier: CA355677879

Gene: EHHADH

Linked Data

• MyVariant Identifiers: chr3:g.184971736C>T (hg19) ; chr3:g.185253948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253948C>T , CM000665.2:g.185253948C>T	GRCh38
NC_000003.11:g.184971736C>T , CM000665.1:g.184971736C>T	GRCh37
NC_000003.10:g.186454430C>T	NCBI36
NG_015999.1:g.5151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.74+1G>A MANE Select	ENSP00000231887.3:n.74+1G>A
ENST00000231887.7:c.74+1G>A	ENSP00000231887.3:n.74+1G>A
ENST00000440662.1:c.74+1G>A	ENSP00000396798.1:n.74+1G>A
ENST00000456310.5:c.-337G>A	ENSP00000387746.1:n.-337G>A
ENST00000465178.1:n.228-5431G>A
ENST00000475987.1:n.101+1G>A
NM_001166415.1:c.-337G>A	NP_001159887.1:n.-337G>A
NM_001966.3:c.74+1G>A	NP_001957.2:n.74+1G>A
XM_006713525.1:c.-582+1G>A	XP_006713588.1:n.-582+1G>A
XM_011512517.1:c.-214-5431G>A	XP_011510819.1:n.-214-5431G>A
NM_001966.4:c.74+1G>A MANE Select	NP_001957.2:n.74+1G>A
NM_001166415.2:c.-337G>A	NP_001159887.1:n.-337G>A