Canonical Allele Identifier: CA355678091

Gene: EHHADH

Linked Data

• MyVariant Identifiers: chr3:g.184971791A>C (hg19) ; chr3:g.185254003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254003A>C , CM000665.2:g.185254003A>C	GRCh38
NC_000003.11:g.184971791A>C , CM000665.1:g.184971791A>C	GRCh37
NC_000003.10:g.186454485A>C	NCBI36
NG_015999.1:g.5096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.20T>G MANE Select	ENSP00000231887.3:p.Leu7Arg
ENST00000231887.7:c.20T>G	ENSP00000231887.3:p.Leu7Arg
ENST00000440662.1:c.20T>G	ENSP00000396798.1:p.Leu7Arg
ENST00000456310.5:c.-392T>G	ENSP00000387746.1:n.-392T>G
ENST00000465178.1:n.228-5486T>G
ENST00000475987.1:n.47T>G
NM_001166415.1:c.-392T>G	NP_001159887.1:n.-392T>G
NM_001966.3:c.20T>G	NP_001957.2:p.Leu7Arg
XM_006713525.1:c.-636T>G	XP_006713588.1:n.-636T>G
XM_011512517.1:c.-214-5486T>G	XP_011510819.1:n.-214-5486T>G
NM_001966.4:c.20T>G MANE Select	NP_001957.2:p.Leu7Arg
NM_001166415.2:c.-392T>G	NP_001159887.1:n.-392T>G