Canonical Allele Identifier: CA355678012

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253982-A-G
• MyVariant Identifiers: chr3:g.184971770A>G (hg19) ; chr3:g.185253982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253982A>G , CM000665.2:g.185253982A>G	GRCh38
NC_000003.11:g.184971770A>G , CM000665.1:g.184971770A>G	GRCh37
NC_000003.10:g.186454464A>G	NCBI36
NG_015999.1:g.5117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.41T>C MANE Select	ENSP00000231887.3:p.Ile14Thr
ENST00000231887.7:c.41T>C	ENSP00000231887.3:p.Ile14Thr
ENST00000440662.1:c.41T>C	ENSP00000396798.1:p.Ile14Thr
ENST00000456310.5:c.-371T>C	ENSP00000387746.1:n.-371T>C
ENST00000465178.1:n.228-5465T>C
ENST00000475987.1:n.68T>C
NM_001166415.1:c.-371T>C	NP_001159887.1:n.-371T>C
NM_001966.3:c.41T>C	NP_001957.2:p.Ile14Thr
XM_006713525.1:c.-615T>C	XP_006713588.1:n.-615T>C
XM_011512517.1:c.-214-5465T>C	XP_011510819.1:n.-214-5465T>C
NM_001966.4:c.41T>C MANE Select	NP_001957.2:p.Ile14Thr
NM_001166415.2:c.-371T>C	NP_001159887.1:n.-371T>C