Canonical Allele Identifier: CA89578435
Gene: EHHADH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185228061C>T , CM000665.2:g.185228061C>T GRCh38
NC_000003.11:g.184945849C>T , CM000665.1:g.184945849C>T GRCh37
NC_000003.10:g.186428543C>T NCBI36
NG_015999.1:g.31038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.463+1371G>A MANE Select ENSP00000231887.3:n.463+1371G>A
ENST00000231887.7:c.463+1371G>A ENSP00000231887.3:n.463+1371G>A
ENST00000456310.5:c.175+1371G>A ENSP00000387746.1:n.175+1371G>A
ENST00000475987.1:n.491-1203G>A
ENST00000483104.5:n.173+7229G>A
NM_001166415.1:c.175+1371G>A NP_001159887.1:n.175+1371G>A
NM_001966.3:c.463+1371G>A NP_001957.2:n.463+1371G>A
XM_006713525.1:c.-192-1203G>A XP_006713588.1:n.-192-1203G>A
XM_011512517.1:c.175+1371G>A XP_011510819.1:n.175+1371G>A
NM_001966.4:c.463+1371G>A MANE Select NP_001957.2:n.463+1371G>A
NM_001166415.2:c.175+1371G>A NP_001159887.1:n.175+1371G>A
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