Canonical Allele Identifier: CA1426396637
Gene: EHHADH HGNC NCBI

Linked Data

dbSNP Id: rs1719834511
gnomAD v4: 3-185254118-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185254118G>A , CM000665.2:g.185254118G>A GRCh38
NC_000003.11:g.184971906G>A , CM000665.1:g.184971906G>A GRCh37
NC_000003.10:g.186454600G>A NCBI36
NG_015999.1:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000465178.1:n.228-5601C>T
XM_011512517.1:c.-214-5601C>T XP_011510819.1:n.-214-5601C>T
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