Canonical Allele Identifier: CA903828649

Gene: EHHADH

Linked Data

• dbSNP Id: rs1425480166
• gnomAD v4: 3-185254203-A-G
• MyVariant Identifiers: chr3:g.184971991A>G (hg19) ; chr3:g.185254203A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254203A>G , CM000665.2:g.185254203A>G	GRCh38
NC_000003.11:g.184971991A>G , CM000665.1:g.184971991A>G	GRCh37
NC_000003.10:g.186454685A>G	NCBI36
NG_015999.1:g.4896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5686T>C
XM_011512517.1:c.-214-5686T>C	XP_011510819.1:n.-214-5686T>C