Canonical Allele Identifier: CA89521541
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs907154282
gnomAD v2: 3-184971868-G-A
gnomAD v3: 3-185254080-G-A
gnomAD v4: 3-185254080-G-A
MyVariant Identifiers: chr3:g.184971868G>A (hg19) chr3:g.185254080G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254080G>A , CM000665.2:g.185254080G>A GRCh38
NC_000003.11:g.184971868G>A , CM000665.1:g.184971868G>A GRCh37
NC_000003.10:g.186454562G>A NCBI36
NG_015999.1:g.5019C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.7:c.-58C>T ENSP00000231887.3:n.-58C>T
ENST00000465178.1:n.228-5563C>T
NM_001166415.1:c.-469C>T NP_001159887.1:n.-469C>T
NM_001966.3:c.-58C>T NP_001957.2:n.-58C>T
XM_011512517.1:c.-214-5563C>T XP_011510819.1:n.-214-5563C>T
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