Canonical Allele Identifier: CA2739344

Gene: EHHADH

Linked Data

• dbSNP Id: rs749486189
• ExAC: 3:184971718 A / C
• gnomAD v2: 3-184971718-A-C
• gnomAD v4: 3-185253930-A-C
• MyVariant Identifiers: chr3:g.184971718A>C (hg19) ; chr3:g.185253930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253930A>C , CM000665.2:g.185253930A>C	GRCh38
NC_000003.11:g.184971718A>C , CM000665.1:g.184971718A>C	GRCh37
NC_000003.10:g.186454412A>C	NCBI36
NG_015999.1:g.5169T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.74+19T>G MANE Select	ENSP00000231887.3:n.74+19T>G
ENST00000231887.7:c.74+19T>G	ENSP00000231887.3:n.74+19T>G
ENST00000440662.1:c.74+19T>G	ENSP00000396798.1:n.74+19T>G
ENST00000456310.5:c.-319T>G	ENSP00000387746.1:n.-319T>G
ENST00000465178.1:n.228-5413T>G
ENST00000475987.1:n.101+19T>G
NM_001166415.1:c.-319T>G	NP_001159887.1:n.-319T>G
NM_001966.3:c.74+19T>G	NP_001957.2:n.74+19T>G
XM_006713525.1:c.-582+19T>G	XP_006713588.1:n.-582+19T>G
XM_011512517.1:c.-214-5413T>G	XP_011510819.1:n.-214-5413T>G
NM_001966.4:c.74+19T>G MANE Select	NP_001957.2:n.74+19T>G
NM_001166415.2:c.-319T>G	NP_001159887.1:n.-319T>G