Canonical Allele Identifier: CA355678083

Gene: EHHADH

Linked Data

• dbSNP Id: rs1719827770
• gnomAD v4: 3-185254000-T-C
• MyVariant Identifiers: chr3:g.184971788T>C (hg19) ; chr3:g.185254000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254000T>C , CM000665.2:g.185254000T>C	GRCh38
NC_000003.11:g.184971788T>C , CM000665.1:g.184971788T>C	GRCh37
NC_000003.10:g.186454482T>C	NCBI36
NG_015999.1:g.5099A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.23A>G MANE Select	ENSP00000231887.3:p.His8Arg
ENST00000231887.7:c.23A>G	ENSP00000231887.3:p.His8Arg
ENST00000440662.1:c.23A>G	ENSP00000396798.1:p.His8Arg
ENST00000456310.5:c.-389A>G	ENSP00000387746.1:n.-389A>G
ENST00000465178.1:n.228-5483A>G
ENST00000475987.1:n.50A>G
NM_001166415.1:c.-389A>G	NP_001159887.1:n.-389A>G
NM_001966.3:c.23A>G	NP_001957.2:p.His8Arg
XM_006713525.1:c.-633A>G	XP_006713588.1:n.-633A>G
XM_011512517.1:c.-214-5483A>G	XP_011510819.1:n.-214-5483A>G
NM_001966.4:c.23A>G MANE Select	NP_001957.2:p.His8Arg
NM_001166415.2:c.-389A>G	NP_001159887.1:n.-389A>G