Canonical Allele Identifier: CA1360917193

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717855A= , CM000665.2:g.43717855A=	GRCh38
NC_000003.11:g.43759347A= , CM000665.1:g.43759347A=	GRCh37
NC_000003.10:g.43734351A=	NCBI36
NG_007090.3:g.31973A=
NG_007090.5:g.31986A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.357A=
ENST00000454293.2:c.835A=	ENSP00000412014.2:p.Ile279=
ENST00000458276.7:c.774-588A=	ENSP00000390849.3:n.774-588A=
ENST00000463153.2:c.185A=
ENST00000642351.1:c.835A=	ENSP00000494478.1:p.Ile279=
ENST00000643140.1:c.*320A=	ENSP00000495588.1:n.*320A=
ENST00000643477.1:c.*419A=	ENSP00000496220.1:n.*419A=
ENST00000643500.1:c.*159A=	ENSP00000494735.1:n.*159A=
ENST00000643520.1:n.1124A=
ENST00000644371.2:c.958A= MANE Select	ENSP00000495778.1:p.Ile320=
ENST00000646378.1:c.*1008A=	ENSP00000495826.1:n.*1008A=
ENST00000646799.1:c.*248-588A=	ENSP00000494829.1:n.*248-588A=
ENST00000649763.1:c.958A=	ENSP00000497701.1:p.Ile320=
ENST00000413300.1:c.359A=	ENSP00000392159.1:p.Asn120=
ENST00000458276.6:c.958A=	ENSP00000390849.2:p.Ile320=
ENST00000463153.1:n.188A=
NM_016006.4:c.958A=	NP_057090.2:p.Ile320=
XM_011533779.1:c.835A=	XP_011532081.1:p.Ile279=
XM_011533780.1:c.774-588A=	XP_011532082.1:n.774-588A=
XR_940447.1:n.903A=
NM_001355186.1:c.958A=	NP_001342115.1:p.Ile320=
NM_001365649.1:c.835A=	NP_001352578.1:p.Ile279=
NM_001365650.1:c.774-588A=	NP_001352579.1:n.774-588A=
NM_016006.5:c.958A=	NP_057090.2:p.Ile320=
NR_158560.1:n.969A=
NM_001355186.2:c.958A=	NP_001342115.1:p.Ile320=
NM_016006.6:c.958A= MANE Select	NP_057090.2:p.Ile320=