Canonical Allele Identifier: CA2739369

Gene: EHHADH

Linked Data

• dbSNP Id: rs940360362
• ExAC: 3:184971802 C / A
• gnomAD v2: 3-184971802-C-A
• gnomAD v3: 3-185254014-C-A
• gnomAD v4: 3-185254014-C-A
• MyVariant Identifiers: chr3:g.184971802C>A (hg19) ; chr3:g.184971802_184971813delinsATCGGCCATGTT (hg19) ; chr3:g.185254014C>A (hg38) ; chr3:g.185254014_185254025delinsATCGGCCATGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254014C>A , CM000665.2:g.185254014C>A	GRCh38
NC_000003.11:g.184971802C>A , CM000665.1:g.184971802C>A	GRCh37
NC_000003.10:g.186454496C>A	NCBI36
NG_015999.1:g.5085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.9G>T MANE Select	ENSP00000231887.3:p.Glu3Asp
ENST00000231887.7:c.9G>T	ENSP00000231887.3:p.Glu3Asp
ENST00000440662.1:c.9G>T	ENSP00000396798.1:p.Glu3Asp
ENST00000456310.5:c.-403G>T	ENSP00000387746.1:n.-403G>T
ENST00000465178.1:n.228-5497G>T
ENST00000475987.1:n.36G>T
NM_001166415.1:c.-403G>T	NP_001159887.1:n.-403G>T
NM_001966.3:c.9G>T	NP_001957.2:p.Glu3Asp
XM_006713525.1:c.-647G>T	XP_006713588.1:n.-647G>T
XM_011512517.1:c.-214-5497G>T	XP_011510819.1:n.-214-5497G>T
NM_001966.4:c.9G>T MANE Select	NP_001957.2:p.Glu3Asp
NM_001166415.2:c.-403G>T	NP_001159887.1:n.-403G>T