Canonical Allele Identifier: CA2341366

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43711708G>A , CM000665.2:g.43711708G>A	GRCh38
NC_000003.11:g.43753200G>A , CM000665.1:g.43753200G>A	GRCh37
NC_000003.10:g.43728204G>A	NCBI36
NG_007090.3:g.25826G>A
NG_007090.5:g.25839G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.507-1G>A MANE Select	NP_057090.2:n.507-1G>A
ENST00000644371.2:c.507-1G>A MANE Select	ENSP00000495778.1:n.507-1G>A
NM_001355186.1:c.507-1G>A	NP_001342115.1:n.507-1G>A
NM_001355186.2:c.507-1G>A	NP_001342115.1:n.507-1G>A
NM_001365649.1:c.384-1G>A	NP_001352578.1:n.384-1G>A
NM_001365650.1:c.507-1G>A	NP_001352579.1:n.507-1G>A
NM_016006.4:c.507-1G>A	NP_057090.2:n.507-1G>A
NM_016006.5:c.507-1G>A	NP_057090.2:n.507-1G>A
NR_158560.1:n.630-1G>A
ENST00000013894.2:c.*501-1G>A	ENSP00000013894.2:n.*501-1G>A
ENST00000013894.3:c.*501-1G>A	ENSP00000013894.2:n.*501-1G>A
ENST00000413300.1:c.2G>A	ENSP00000392159.1:p.Arg1Lys
ENST00000454293.2:c.384-1G>A	ENSP00000412014.2:n.384-1G>A
ENST00000458276.6:c.507-1G>A	ENSP00000390849.2:n.507-1G>A
ENST00000458276.7:c.507-1G>A	ENSP00000390849.3:n.507-1G>A
ENST00000642351.1:c.384-1G>A	ENSP00000494478.1:n.384-1G>A
ENST00000643140.1:c.134-1G>A	ENSP00000495588.1:n.134-1G>A
ENST00000643477.1:c.*80-1G>A	ENSP00000496220.1:n.*80-1G>A
ENST00000643500.1:c.507-1G>A	ENSP00000494735.1:n.507-1G>A
ENST00000643520.1:n.673-1G>A
ENST00000646378.1:c.*557-1G>A	ENSP00000495826.1:n.*557-1G>A
ENST00000646799.1:c.134-1G>A	ENSP00000494829.1:n.134-1G>A
ENST00000649763.1:c.507-1G>A	ENSP00000497701.1:n.507-1G>A
XM_011533779.1:c.384-1G>A	XP_011532081.1:n.384-1G>A
XM_011533780.1:c.507-1G>A	XP_011532082.1:n.507-1G>A
XR_940447.1:n.564-1G>A