Canonical Allele Identifier: CA2668886236

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185254033-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254033T>C , CM000665.2:g.185254033T>C	GRCh38
NC_000003.11:g.184971821T>C , CM000665.1:g.184971821T>C	GRCh37
NC_000003.10:g.186454515T>C	NCBI36
NG_015999.1:g.5066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.-11A>G MANE Select	ENSP00000231887.3:n.-11A>G
ENST00000231887.7:c.-11A>G	ENSP00000231887.3:n.-11A>G
ENST00000456310.5:c.-422A>G	ENSP00000387746.1:n.-422A>G
ENST00000465178.1:n.228-5516A>G
ENST00000475987.1:n.17A>G
NM_001166415.1:c.-422A>G	NP_001159887.1:n.-422A>G
NM_001966.3:c.-11A>G	NP_001957.2:n.-11A>G
XM_006713525.1:c.-666A>G	XP_006713588.1:n.-666A>G
XM_011512517.1:c.-214-5516A>G	XP_011510819.1:n.-214-5516A>G
NM_001966.4:c.-11A>G MANE Select	NP_001957.2:n.-11A>G
NM_001166415.2:c.-422A>G	NP_001159887.1:n.-422A>G