Canonical Allele Identifier: CA2739380

Gene: EHHADH

Linked Data

• dbSNP Id: rs759424645
• ExAC: 3:184971824 C / A
• gnomAD v2: 3-184971824-C-A
• MyVariant Identifiers: chr3:g.184971824C>A (hg19) ; chr3:g.185254036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254036C>A , CM000665.2:g.185254036C>A	GRCh38
NC_000003.11:g.184971824C>A , CM000665.1:g.184971824C>A	GRCh37
NC_000003.10:g.186454518C>A	NCBI36
NG_015999.1:g.5063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.-14G>T MANE Select	ENSP00000231887.3:n.-14G>T
ENST00000231887.7:c.-14G>T	ENSP00000231887.3:n.-14G>T
ENST00000456310.5:c.-425G>T	ENSP00000387746.1:n.-425G>T
ENST00000465178.1:n.228-5519G>T
ENST00000475987.1:n.14G>T
NM_001166415.1:c.-425G>T	NP_001159887.1:n.-425G>T
NM_001966.3:c.-14G>T	NP_001957.2:n.-14G>T
XM_006713525.1:c.-669G>T	XP_006713588.1:n.-669G>T
XM_011512517.1:c.-214-5519G>T	XP_011510819.1:n.-214-5519G>T
NM_001966.4:c.-14G>T MANE Select	NP_001957.2:n.-14G>T
NM_001166415.2:c.-425G>T	NP_001159887.1:n.-425G>T