Canonical Allele Identifier: CA89521558

Gene: EHHADH

Linked Data

• dbSNP Id: rs577027895
• gnomAD v3: 3-185254146-C-T
• gnomAD v4: 3-185254146-C-T
• MyVariant Identifiers: chr3:g.184971934C>T (hg19) ; chr3:g.185254146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254146C>T , CM000665.2:g.185254146C>T	GRCh38
NC_000003.11:g.184971934C>T , CM000665.1:g.184971934C>T	GRCh37
NC_000003.10:g.186454628C>T	NCBI36
NG_015999.1:g.4953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5629G>A
XM_011512517.1:c.-214-5629G>A	XP_011510819.1:n.-214-5629G>A