Canonical Allele Identifier: CA1360917189

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717838A= , CM000665.2:g.43717838A=	GRCh38
NC_000003.11:g.43759330A= , CM000665.1:g.43759330A=	GRCh37
NC_000003.10:g.43734334A=	NCBI36
NG_007090.3:g.31956A=
NG_007090.5:g.31969A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.340A=
ENST00000454293.2:c.818A=	ENSP00000412014.2:p.His273=
ENST00000458276.7:c.774-605A=	ENSP00000390849.3:n.774-605A=
ENST00000463153.2:c.168A=
ENST00000642351.1:c.818A=	ENSP00000494478.1:p.His273=
ENST00000643140.1:c.*303A=	ENSP00000495588.1:n.*303A=
ENST00000643477.1:c.*402A=	ENSP00000496220.1:n.*402A=
ENST00000643500.1:c.*142A=	ENSP00000494735.1:n.*142A=
ENST00000643520.1:n.1107A=
ENST00000644371.2:c.941A= MANE Select	ENSP00000495778.1:p.His314=
ENST00000646378.1:c.*991A=	ENSP00000495826.1:n.*991A=
ENST00000646799.1:c.*248-605A=	ENSP00000494829.1:n.*248-605A=
ENST00000649763.1:c.941A=	ENSP00000497701.1:p.His314=
ENST00000413300.1:c.342A=	ENSP00000392159.1:p.Thr114=
ENST00000458276.6:c.941A=	ENSP00000390849.2:p.His314=
ENST00000463153.1:n.171A=
NM_016006.4:c.941A=	NP_057090.2:p.His314=
XM_011533779.1:c.818A=	XP_011532081.1:p.His273=
XM_011533780.1:c.774-605A=	XP_011532082.1:n.774-605A=
XR_940447.1:n.886A=
NM_001355186.1:c.941A=	NP_001342115.1:p.His314=
NM_001365649.1:c.818A=	NP_001352578.1:p.His273=
NM_001365650.1:c.774-605A=	NP_001352579.1:n.774-605A=
NM_016006.5:c.941A=	NP_057090.2:p.His314=
NR_158560.1:n.952A=
NM_001355186.2:c.941A=	NP_001342115.1:p.His314=
NM_016006.6:c.941A= MANE Select	NP_057090.2:p.His314=