Canonical Allele Identifier: CA89521585

Gene: EHHADH

Linked Data

• dbSNP Id: rs907653555
• gnomAD v2: 3-184972101-C-G
• gnomAD v3: 3-185254313-C-G
• gnomAD v4: 3-185254313-C-G
• MyVariant Identifiers: chr3:g.184972101C>G (hg19) ; chr3:g.185254313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254313C>G , CM000665.2:g.185254313C>G	GRCh38
NC_000003.11:g.184972101C>G , CM000665.1:g.184972101C>G	GRCh37
NC_000003.10:g.186454795C>G	NCBI36
NG_015999.1:g.4786G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5796G>C
XM_011512517.1:c.-214-5796G>C	XP_011510819.1:n.-214-5796G>C