Canonical Allele Identifier: CA2668886228

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253944-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253944G>T , CM000665.2:g.185253944G>T	GRCh38
NC_000003.11:g.184971732G>T , CM000665.1:g.184971732G>T	GRCh37
NC_000003.10:g.186454426G>T	NCBI36
NG_015999.1:g.5155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.74+5C>A MANE Select	ENSP00000231887.3:n.74+5C>A
ENST00000231887.7:c.74+5C>A	ENSP00000231887.3:n.74+5C>A
ENST00000440662.1:c.74+5C>A	ENSP00000396798.1:n.74+5C>A
ENST00000456310.5:c.-333C>A	ENSP00000387746.1:n.-333C>A
ENST00000465178.1:n.228-5427C>A
ENST00000475987.1:n.101+5C>A
NM_001166415.1:c.-333C>A	NP_001159887.1:n.-333C>A
NM_001966.3:c.74+5C>A	NP_001957.2:n.74+5C>A
XM_006713525.1:c.-582+5C>A	XP_006713588.1:n.-582+5C>A
XM_011512517.1:c.-214-5427C>A	XP_011510819.1:n.-214-5427C>A
NM_001966.4:c.74+5C>A MANE Select	NP_001957.2:n.74+5C>A
NM_001166415.2:c.-333C>A	NP_001159887.1:n.-333C>A