Canonical Allele Identifier: CA1360917194

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717856T= , CM000665.2:g.43717856T=	GRCh38
NC_000003.11:g.43759348T= , CM000665.1:g.43759348T=	GRCh37
NC_000003.10:g.43734352T=	NCBI36
NG_007090.3:g.31974T=
NG_007090.5:g.31987T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.358T=
ENST00000454293.2:c.836T=	ENSP00000412014.2:p.Ile279=
ENST00000458276.7:c.774-587T=	ENSP00000390849.3:n.774-587T=
ENST00000463153.2:c.186T=
ENST00000642351.1:c.836T=	ENSP00000494478.1:p.Ile279=
ENST00000643140.1:c.*321T=	ENSP00000495588.1:n.*321T=
ENST00000643477.1:c.*420T=	ENSP00000496220.1:n.*420T=
ENST00000643500.1:c.*160T=	ENSP00000494735.1:n.*160T=
ENST00000643520.1:n.1125T=
ENST00000644371.2:c.959T= MANE Select	ENSP00000495778.1:p.Ile320=
ENST00000646378.1:c.*1009T=	ENSP00000495826.1:n.*1009T=
ENST00000646799.1:c.*248-587T=	ENSP00000494829.1:n.*248-587T=
ENST00000649763.1:c.959T=	ENSP00000497701.1:p.Ile320=
ENST00000413300.1:c.360T=	ENSP00000392159.1:p.Asn120=
ENST00000458276.6:c.959T=	ENSP00000390849.2:p.Ile320=
ENST00000463153.1:n.189T=
NM_016006.4:c.959T=	NP_057090.2:p.Ile320=
XM_011533779.1:c.836T=	XP_011532081.1:p.Ile279=
XM_011533780.1:c.774-587T=	XP_011532082.1:n.774-587T=
XR_940447.1:n.904T=
NM_001355186.1:c.959T=	NP_001342115.1:p.Ile320=
NM_001365649.1:c.836T=	NP_001352578.1:p.Ile279=
NM_001365650.1:c.774-587T=	NP_001352579.1:n.774-587T=
NM_016006.5:c.959T=	NP_057090.2:p.Ile320=
NR_158560.1:n.970T=
NM_001355186.2:c.959T=	NP_001342115.1:p.Ile320=
NM_016006.6:c.959T= MANE Select	NP_057090.2:p.Ile320=