Canonical Allele Identifier: CA355677995

Gene: EHHADH

Linked Data

• dbSNP Id: rs375593577
• gnomAD v4: 3-185253977-G-T
• MyVariant Identifiers: chr3:g.184971765G>T (hg19) ; chr3:g.185253977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253977G>T , CM000665.2:g.185253977G>T	GRCh38
NC_000003.11:g.184971765G>T , CM000665.1:g.184971765G>T	GRCh37
NC_000003.10:g.186454459G>T	NCBI36
NG_015999.1:g.5122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.46C>A MANE Select	ENSP00000231887.3:p.Leu16Ile
ENST00000231887.7:c.46C>A	ENSP00000231887.3:p.Leu16Ile
ENST00000440662.1:c.46C>A	ENSP00000396798.1:p.Leu16Ile
ENST00000456310.5:c.-366C>A	ENSP00000387746.1:n.-366C>A
ENST00000465178.1:n.228-5460C>A
ENST00000475987.1:n.73C>A
NM_001166415.1:c.-366C>A	NP_001159887.1:n.-366C>A
NM_001966.3:c.46C>A	NP_001957.2:p.Leu16Ile
XM_006713525.1:c.-610C>A	XP_006713588.1:n.-610C>A
XM_011512517.1:c.-214-5460C>A	XP_011510819.1:n.-214-5460C>A
NM_001966.4:c.46C>A MANE Select	NP_001957.2:p.Leu16Ile
NM_001166415.2:c.-366C>A	NP_001159887.1:n.-366C>A