Canonical Allele Identifier: CA437347200
Gene: EHHADH HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184971796C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254008C>T , CM000665.2:g.185254008C>T GRCh38
NC_000003.11:g.184971796C>T , CM000665.1:g.184971796C>T GRCh37
NC_000003.10:g.186454490C>T NCBI36
NG_015999.1:g.5091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.15G>A MANE Select ENSP00000231887.3:p.Thr5=
ENST00000231887.7:c.15G>A ENSP00000231887.3:p.Thr5=
ENST00000440662.1:c.15G>A ENSP00000396798.1:p.Thr5=
ENST00000456310.5:c.-397G>A ENSP00000387746.1:n.-397G>A
ENST00000465178.1:n.228-5491G>A
ENST00000475987.1:n.42G>A
NM_001166415.1:c.-397G>A NP_001159887.1:n.-397G>A
NM_001966.3:c.15G>A NP_001957.2:p.Thr5=
XM_006713525.1:c.-641G>A XP_006713588.1:n.-641G>A
XM_011512517.1:c.-214-5491G>A XP_011510819.1:n.-214-5491G>A
NM_001966.4:c.15G>A MANE Select NP_001957.2:p.Thr5=
NM_001166415.2:c.-397G>A NP_001159887.1:n.-397G>A