Canonical Allele Identifier: CA355677891

Gene: EHHADH

Linked Data

• MyVariant Identifiers: chr3:g.184971739G>C (hg19) ; chr3:g.185253951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253951G>C , CM000665.2:g.185253951G>C	GRCh38
NC_000003.11:g.184971739G>C , CM000665.1:g.184971739G>C	GRCh37
NC_000003.10:g.186454433G>C	NCBI36
NG_015999.1:g.5148C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.72C>G MANE Select	ENSP00000231887.3:p.Ile24Met
ENST00000231887.7:c.72C>G	ENSP00000231887.3:p.Ile24Met
ENST00000440662.1:c.72C>G	ENSP00000396798.1:p.Ile24Met
ENST00000456310.5:c.-340C>G	ENSP00000387746.1:n.-340C>G
ENST00000465178.1:n.228-5434C>G
ENST00000475987.1:n.99C>G
NM_001166415.1:c.-340C>G	NP_001159887.1:n.-340C>G
NM_001966.3:c.72C>G	NP_001957.2:p.Ile24Met
XM_006713525.1:c.-584C>G	XP_006713588.1:n.-584C>G
XM_011512517.1:c.-214-5434C>G	XP_011510819.1:n.-214-5434C>G
NM_001966.4:c.72C>G MANE Select	NP_001957.2:p.Ile24Met
NM_001166415.2:c.-340C>G	NP_001159887.1:n.-340C>G