Canonical Allele Identifier: CA437347105

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253975-G-C
• MyVariant Identifiers: chr3:g.184971763G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253975G>C , CM000665.2:g.185253975G>C	GRCh38
NC_000003.11:g.184971763G>C , CM000665.1:g.184971763G>C	GRCh37
NC_000003.10:g.186454457G>C	NCBI36
NG_015999.1:g.5124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.48C>G MANE Select	ENSP00000231887.3:p.Leu16=
ENST00000231887.7:c.48C>G	ENSP00000231887.3:p.Leu16=
ENST00000440662.1:c.48C>G	ENSP00000396798.1:p.Leu16=
ENST00000456310.5:c.-364C>G	ENSP00000387746.1:n.-364C>G
ENST00000465178.1:n.228-5458C>G
ENST00000475987.1:n.75C>G
NM_001166415.1:c.-364C>G	NP_001159887.1:n.-364C>G
NM_001966.3:c.48C>G	NP_001957.2:p.Leu16=
XM_006713525.1:c.-608C>G	XP_006713588.1:n.-608C>G
XM_011512517.1:c.-214-5458C>G	XP_011510819.1:n.-214-5458C>G
NM_001966.4:c.48C>G MANE Select	NP_001957.2:p.Leu16=
NM_001166415.2:c.-364C>G	NP_001159887.1:n.-364C>G