Canonical Allele Identifier: CA548429195
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1386965918
gnomAD v2: 3-184972002-G-A
gnomAD v3: 3-185254214-G-A
gnomAD v4: 3-185254214-G-A
MyVariant Identifiers: chr3:g.184972002G>A (hg19) chr3:g.185254214G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254214G>A , CM000665.2:g.185254214G>A GRCh38
NC_000003.11:g.184972002G>A , CM000665.1:g.184972002G>A GRCh37
NC_000003.10:g.186454696G>A NCBI36
NG_015999.1:g.4885C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5697C>T
XM_011512517.1:c.-214-5697C>T XP_011510819.1:n.-214-5697C>T
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