Canonical Allele Identifier: CA355678057

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253995-C-A
• MyVariant Identifiers: chr3:g.184971783C>A (hg19) ; chr3:g.185253995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253995C>A , CM000665.2:g.185253995C>A	GRCh38
NC_000003.11:g.184971783C>A , CM000665.1:g.184971783C>A	GRCh37
NC_000003.10:g.186454477C>A	NCBI36
NG_015999.1:g.5104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.28G>T MANE Select	ENSP00000231887.3:p.Ala10Ser
ENST00000231887.7:c.28G>T	ENSP00000231887.3:p.Ala10Ser
ENST00000440662.1:c.28G>T	ENSP00000396798.1:p.Ala10Ser
ENST00000456310.5:c.-384G>T	ENSP00000387746.1:n.-384G>T
ENST00000465178.1:n.228-5478G>T
ENST00000475987.1:n.55G>T
NM_001166415.1:c.-384G>T	NP_001159887.1:n.-384G>T
NM_001966.3:c.28G>T	NP_001957.2:p.Ala10Ser
XM_006713525.1:c.-628G>T	XP_006713588.1:n.-628G>T
XM_011512517.1:c.-214-5478G>T	XP_011510819.1:n.-214-5478G>T
NM_001966.4:c.28G>T MANE Select	NP_001957.2:p.Ala10Ser
NM_001166415.2:c.-384G>T	NP_001159887.1:n.-384G>T