Canonical Allele Identifier: CA1057301783
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1283999465
gnomAD v3: 3-185254059-C-T
gnomAD v4: 3-185254059-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254059C>T , CM000665.2:g.185254059C>T GRCh38
NC_000003.11:g.184971847C>T , CM000665.1:g.184971847C>T GRCh37
NC_000003.10:g.186454541C>T NCBI36
NG_015999.1:g.5040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.7:c.-37G>A ENSP00000231887.3:n.-37G>A
ENST00000465178.1:n.228-5542G>A
NM_001166415.1:c.-448G>A NP_001159887.1:n.-448G>A
NM_001966.3:c.-37G>A NP_001957.2:n.-37G>A
XM_011512517.1:c.-214-5542G>A XP_011510819.1:n.-214-5542G>A
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