Canonical Allele Identifier: CA2739357

Gene: EHHADH

Linked Data

• dbSNP Id: rs762780943
• ExAC: 3:184971764 A / G
• gnomAD v2: 3-184971764-A-G
• gnomAD v4: 3-185253976-A-G
• MyVariant Identifiers: chr3:g.184971764A>G (hg19) ; chr3:g.185253976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253976A>G , CM000665.2:g.185253976A>G	GRCh38
NC_000003.11:g.184971764A>G , CM000665.1:g.184971764A>G	GRCh37
NC_000003.10:g.186454458A>G	NCBI36
NG_015999.1:g.5123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.47T>C MANE Select	ENSP00000231887.3:p.Leu16Pro
ENST00000231887.7:c.47T>C	ENSP00000231887.3:p.Leu16Pro
ENST00000440662.1:c.47T>C	ENSP00000396798.1:p.Leu16Pro
ENST00000456310.5:c.-365T>C	ENSP00000387746.1:n.-365T>C
ENST00000465178.1:n.228-5459T>C
ENST00000475987.1:n.74T>C
NM_001166415.1:c.-365T>C	NP_001159887.1:n.-365T>C
NM_001966.3:c.47T>C	NP_001957.2:p.Leu16Pro
XM_006713525.1:c.-609T>C	XP_006713588.1:n.-609T>C
XM_011512517.1:c.-214-5459T>C	XP_011510819.1:n.-214-5459T>C
NM_001966.4:c.47T>C MANE Select	NP_001957.2:p.Leu16Pro
NM_001166415.2:c.-365T>C	NP_001159887.1:n.-365T>C