Canonical Allele Identifier: CA903828713
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1189381713
gnomAD v3: 3-185254357-C-T
gnomAD v4: 3-185254357-C-T
MyVariant Identifiers: chr3:g.184972145C>T (hg19) chr3:g.185254357C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254357C>T , CM000665.2:g.185254357C>T GRCh38
NC_000003.11:g.184972145C>T , CM000665.1:g.184972145C>T GRCh37
NC_000003.10:g.186454839C>T NCBI36
NG_015999.1:g.4742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5840G>A
XM_011512517.1:c.-214-5840G>A XP_011510819.1:n.-214-5840G>A
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