Canonical Allele Identifier: CA903828672
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1299281861
gnomAD v3: 3-185254306-T-C
gnomAD v4: 3-185254306-T-C
MyVariant Identifiers: chr3:g.184972094T>C (hg19) chr3:g.185254306T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254306T>C , CM000665.2:g.185254306T>C GRCh38
NC_000003.11:g.184972094T>C , CM000665.1:g.184972094T>C GRCh37
NC_000003.10:g.186454788T>C NCBI36
NG_015999.1:g.4793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5789A>G
XM_011512517.1:c.-214-5789A>G XP_011510819.1:n.-214-5789A>G
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