Canonical Allele Identifier: CA903828647
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1162617565
gnomAD v3: 3-185254186-C-A
gnomAD v4: 3-185254186-C-A
MyVariant Identifiers: chr3:g.184971974C>A (hg19) chr3:g.185254186C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254186C>A , CM000665.2:g.185254186C>A GRCh38
NC_000003.11:g.184971974C>A , CM000665.1:g.184971974C>A GRCh37
NC_000003.10:g.186454668C>A NCBI36
NG_015999.1:g.4913G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5669G>T
XM_011512517.1:c.-214-5669G>T XP_011510819.1:n.-214-5669G>T
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