Canonical Allele Identifier: CA548429183

Gene: EHHADH

Linked Data

• dbSNP Id: rs1217905808
• gnomAD v2: 3-184971836-C-G
• gnomAD v4: 3-185254048-C-G
• MyVariant Identifiers: chr3:g.184971836C>G (hg19) ; chr3:g.185254048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254048C>G , CM000665.2:g.185254048C>G	GRCh38
NC_000003.11:g.184971836C>G , CM000665.1:g.184971836C>G	GRCh37
NC_000003.10:g.186454530C>G	NCBI36
NG_015999.1:g.5051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.-26G>C MANE Select	ENSP00000231887.3:n.-26G>C
ENST00000231887.7:c.-26G>C	ENSP00000231887.3:n.-26G>C
ENST00000456310.5:c.-437G>C	ENSP00000387746.1:n.-437G>C
ENST00000465178.1:n.228-5531G>C
ENST00000475987.1:n.2G>C
NM_001166415.1:c.-437G>C	NP_001159887.1:n.-437G>C
NM_001966.3:c.-26G>C	NP_001957.2:n.-26G>C
XM_006713525.1:c.-681G>C	XP_006713588.1:n.-681G>C
XM_011512517.1:c.-214-5531G>C	XP_011510819.1:n.-214-5531G>C
NM_001966.4:c.-26G>C MANE Select	NP_001957.2:n.-26G>C
NM_001166415.2:c.-437G>C	NP_001159887.1:n.-437G>C