Canonical Allele Identifier: CA548429182

Gene: EHHADH

Linked Data

• dbSNP Id: rs1339034158
• gnomAD v2: 3-184971828-G-A
• gnomAD v3: 3-185254040-G-A
• gnomAD v4: 3-185254040-G-A
• MyVariant Identifiers: chr3:g.184971828G>A (hg19) ; chr3:g.185254040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254040G>A , CM000665.2:g.185254040G>A	GRCh38
NC_000003.11:g.184971828G>A , CM000665.1:g.184971828G>A	GRCh37
NC_000003.10:g.186454522G>A	NCBI36
NG_015999.1:g.5059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.-18C>T MANE Select	ENSP00000231887.3:n.-18C>T
ENST00000231887.7:c.-18C>T	ENSP00000231887.3:n.-18C>T
ENST00000456310.5:c.-429C>T	ENSP00000387746.1:n.-429C>T
ENST00000465178.1:n.228-5523C>T
ENST00000475987.1:n.10C>T
NM_001166415.1:c.-429C>T	NP_001159887.1:n.-429C>T
NM_001966.3:c.-18C>T	NP_001957.2:n.-18C>T
XM_006713525.1:c.-673C>T	XP_006713588.1:n.-673C>T
XM_011512517.1:c.-214-5523C>T	XP_011510819.1:n.-214-5523C>T
NM_001966.4:c.-18C>T MANE Select	NP_001957.2:n.-18C>T
NM_001166415.2:c.-429C>T	NP_001159887.1:n.-429C>T