Canonical Allele Identifier: CA89521578
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs180904348
gnomAD v2: 3-184972058-G-A
gnomAD v3: 3-185254270-G-A
gnomAD v4: 3-185254270-G-A
MyVariant Identifiers: chr3:g.184972058G>A (hg19) chr3:g.185254270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254270G>A , CM000665.2:g.185254270G>A GRCh38
NC_000003.11:g.184972058G>A , CM000665.1:g.184972058G>A GRCh37
NC_000003.10:g.186454752G>A NCBI36
NG_015999.1:g.4829C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5753C>T
XM_011512517.1:c.-214-5753C>T XP_011510819.1:n.-214-5753C>T
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