Canonical Allele Identifier: CA2739059

Gene: EHHADH

Linked Data

• ClinVar Variation Id: 593909
• ClinVar RCV Id: RCV000729080 ; RCV003947917
• dbSNP Id: rs146431168
• ExAC: 3:184911180 C / T
• gnomAD v2: 3-184911180-C-T
• gnomAD v3: 3-185193392-C-T
• gnomAD v4: 3-185193392-C-T
• MyVariant Identifiers: chr3:g.184911180C>T (hg19) ; chr3:g.185193392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185193392C>T , CM000665.2:g.185193392C>T	GRCh38
NC_000003.11:g.184911180C>T , CM000665.1:g.184911180C>T	GRCh37
NC_000003.10:g.186393874C>T	NCBI36
NG_015999.1:g.65707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.1006G>A MANE Select	ENSP00000231887.3:p.Ala336Thr
ENST00000231887.7:c.1006G>A	ENSP00000231887.3:p.Ala336Thr
ENST00000456310.5:c.718G>A	ENSP00000387746.1:p.Ala240Thr
NM_001166415.1:c.718G>A	NP_001159887.1:p.Ala240Thr
NM_001966.3:c.1006G>A	NP_001957.2:p.Ala336Thr
XM_006713525.1:c.382G>A	XP_006713588.1:p.Ala128Thr
XM_011512517.1:c.718G>A	XP_011510819.1:p.Ala240Thr
NM_001966.4:c.1006G>A MANE Select	NP_001957.2:p.Ala336Thr
NM_001166415.2:c.718G>A	NP_001159887.1:p.Ala240Thr