Canonical Allele Identifier: CA89521552

Gene: EHHADH

Linked Data

• dbSNP Id: rs1011390776
• gnomAD v4: 3-185254125-T-C
• MyVariant Identifiers: chr3:g.184971913T>C (hg19) ; chr3:g.185254125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254125T>C , CM000665.2:g.185254125T>C	GRCh38
NC_000003.11:g.184971913T>C , CM000665.1:g.184971913T>C	GRCh37
NC_000003.10:g.186454607T>C	NCBI36
NG_015999.1:g.4974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5608A>G
XM_011512517.1:c.-214-5608A>G	XP_011510819.1:n.-214-5608A>G