Canonical Allele Identifier: CA2668886300

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185254133-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254133G>C , CM000665.2:g.185254133G>C	GRCh38
NC_000003.11:g.184971921G>C , CM000665.1:g.184971921G>C	GRCh37
NC_000003.10:g.186454615G>C	NCBI36
NG_015999.1:g.4966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5616C>G
XM_011512517.1:c.-214-5616C>G	XP_011510819.1:n.-214-5616C>G