Canonical Allele Identifier: CA903828614
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1315335116
gnomAD v3: 3-185254131-C-T
gnomAD v4: 3-185254131-C-T
MyVariant Identifiers: chr3:g.184971919C>T (hg19) chr3:g.185254131C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254131C>T , CM000665.2:g.185254131C>T GRCh38
NC_000003.11:g.184971919C>T , CM000665.1:g.184971919C>T GRCh37
NC_000003.10:g.186454613C>T NCBI36
NG_015999.1:g.4968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5614G>A
XM_011512517.1:c.-214-5614G>A XP_011510819.1:n.-214-5614G>A
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