Canonical Allele Identifier: CA2738898
Gene: EHHADH HGNC NCBI

Linked Data

ClinVar Variation Id: 501719
ClinVar RCV Id: RCV000598386
dbSNP Id: rs201374672
ExAC: 3:184910289 G / A
gnomAD v2: 3-184910289-G-A
gnomAD v3: 3-185192501-G-A
gnomAD v4: 3-185192501-G-A
MyVariant Identifiers: chr3:g.184910289G>A (hg19) chr3:g.185192501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185192501G>A , CM000665.2:g.185192501G>A GRCh38
NC_000003.11:g.184910289G>A , CM000665.1:g.184910289G>A GRCh37
NC_000003.10:g.186392983G>A NCBI36
NG_015999.1:g.66598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000231887.8:c.1897C>T MANE Select ENSP00000231887.3:p.Arg633Cys
ENST00000231887.7:c.1897C>T ENSP00000231887.3:p.Arg633Cys
ENST00000456310.5:c.1609C>T ENSP00000387746.1:p.Arg537Cys
NM_001166415.1:c.1609C>T NP_001159887.1:p.Arg537Cys
NM_001966.3:c.1897C>T NP_001957.2:p.Arg633Cys
XM_006713525.1:c.1273C>T XP_006713588.1:p.Arg425Cys
XM_011512517.1:c.1609C>T XP_011510819.1:p.Arg537Cys
NM_001966.4:c.1897C>T MANE Select NP_001957.2:p.Arg633Cys
NM_001166415.2:c.1609C>T NP_001159887.1:p.Arg537Cys
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