Canonical Allele Identifier: CA7103344

Gene: ABHD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22603558G>A , CM000676.2:g.22603558G>A	GRCh38
NC_000014.8:g.23072463G>A , CM000676.1:g.23072463G>A	GRCh37
NC_000014.7:g.22142303G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_022060.3:c.281G>A MANE Select	NP_071343.2:p.Arg94His
ENST00000428304.7:c.281G>A MANE Select	ENSP00000414558.2:p.Arg94His
NM_001392009.1:c.209G>A	NP_001378938.1:p.Arg70His
NM_022060.2:c.281G>A	NP_071343.2:p.Arg94His
NR_171624.1:n.288G>A
NR_171625.1:n.288G>A
NR_171626.1:n.227-54G>A
ENST00000216327.10:c.113-30G>A	ENSP00000216327.7:n.113-30G>A
ENST00000418446.6:c.281G>A	ENSP00000388751.2:p.Arg94His
ENST00000428304.6:c.281G>A	ENSP00000414558.2:p.Arg94His
ENST00000537243.5:c.220-43G>A	ENSP00000438332.1:n.220-43G>A
ENST00000539344.1:n.288G>A
ENST00000541962.1:c.157+101G>A
ENST00000542041.1:c.209G>A	ENSP00000437385.1:p.Arg70His
ENST00000544562.5:n.294G>A
XM_005267986.3:c.209G>A	XP_005268043.1:p.Arg70His
XM_005267986.4:c.209G>A	XP_005268043.1:p.Arg70His
XR_001750499.1:n.403G>A
XR_245712.3:n.290G>A
XR_245712.4:n.290G>A