Canonical Allele Identifier: CA437347114
Gene: EHHADH HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184971766G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185253978G>A , CM000665.2:g.185253978G>A GRCh38
NC_000003.11:g.184971766G>A , CM000665.1:g.184971766G>A GRCh37
NC_000003.10:g.186454460G>A NCBI36
NG_015999.1:g.5121C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.45C>T MANE Select ENSP00000231887.3:p.Arg15=
ENST00000231887.7:c.45C>T ENSP00000231887.3:p.Arg15=
ENST00000440662.1:c.45C>T ENSP00000396798.1:p.Arg15=
ENST00000456310.5:c.-367C>T ENSP00000387746.1:n.-367C>T
ENST00000465178.1:n.228-5461C>T
ENST00000475987.1:n.72C>T
NM_001166415.1:c.-367C>T NP_001159887.1:n.-367C>T
NM_001966.3:c.45C>T NP_001957.2:p.Arg15=
XM_006713525.1:c.-611C>T XP_006713588.1:n.-611C>T
XM_011512517.1:c.-214-5461C>T XP_011510819.1:n.-214-5461C>T
NM_001966.4:c.45C>T MANE Select NP_001957.2:p.Arg15=
NM_001166415.2:c.-367C>T NP_001159887.1:n.-367C>T