Canonical Allele Identifier: CA1057301892
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1719839974
gnomAD v3: 3-185254301-G-C
gnomAD v4: 3-185254301-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254301G>C , CM000665.2:g.185254301G>C GRCh38
NC_000003.11:g.184972089G>C , CM000665.1:g.184972089G>C GRCh37
NC_000003.10:g.186454783G>C NCBI36
NG_015999.1:g.4798C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5784C>G
XM_011512517.1:c.-214-5784C>G XP_011510819.1:n.-214-5784C>G
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