Canonical Allele Identifier: CA355678017

Gene: EHHADH

Linked Data

• MyVariant Identifiers: chr3:g.184971771T>C (hg19) ; chr3:g.185253983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253983T>C , CM000665.2:g.185253983T>C	GRCh38
NC_000003.11:g.184971771T>C , CM000665.1:g.184971771T>C	GRCh37
NC_000003.10:g.186454465T>C	NCBI36
NG_015999.1:g.5116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.40A>G MANE Select	ENSP00000231887.3:p.Ile14Val
ENST00000231887.7:c.40A>G	ENSP00000231887.3:p.Ile14Val
ENST00000440662.1:c.40A>G	ENSP00000396798.1:p.Ile14Val
ENST00000456310.5:c.-372A>G	ENSP00000387746.1:n.-372A>G
ENST00000465178.1:n.228-5466A>G
ENST00000475987.1:n.67A>G
NM_001166415.1:c.-372A>G	NP_001159887.1:n.-372A>G
NM_001966.3:c.40A>G	NP_001957.2:p.Ile14Val
XM_006713525.1:c.-616A>G	XP_006713588.1:n.-616A>G
XM_011512517.1:c.-214-5466A>G	XP_011510819.1:n.-214-5466A>G
NM_001966.4:c.40A>G MANE Select	NP_001957.2:p.Ile14Val
NM_001166415.2:c.-372A>G	NP_001159887.1:n.-372A>G