Canonical Allele Identifier: CA1360917118

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717671T= , CM000665.2:g.43717671T=	GRCh38
NC_000003.11:g.43759163T= , CM000665.1:g.43759163T=	GRCh37
NC_000003.10:g.43734167T=	NCBI36
NG_007090.3:g.31789T=
NG_007090.5:g.31802T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-95T=
ENST00000454293.2:c.651T=	ENSP00000412014.2:p.Ser217=
ENST00000458276.7:c.774-772T=	ENSP00000390849.3:n.774-772T=
ENST00000463153.2:c.1T=
ENST00000642351.1:c.651T=	ENSP00000494478.1:p.Ser217=
ENST00000643140.1:c.*136T=	ENSP00000495588.1:n.*136T=
ENST00000643477.1:c.*235T=	ENSP00000496220.1:n.*235T=
ENST00000643500.1:c.662T=	ENSP00000494735.1:p.Val221=
ENST00000643520.1:n.940T=
ENST00000644371.2:c.774T= MANE Select	ENSP00000495778.1:p.Ser258=
ENST00000646378.1:c.*824T=	ENSP00000495826.1:n.*824T=
ENST00000646799.1:c.*248-772T=	ENSP00000494829.1:n.*248-772T=
ENST00000649763.1:c.774T=	ENSP00000497701.1:p.Ser258=
ENST00000413300.1:c.270-95T=	ENSP00000392159.1:n.270-95T=
ENST00000458276.6:c.774T=	ENSP00000390849.2:p.Ser258=
ENST00000463153.1:n.4T=
NM_016006.4:c.774T=	NP_057090.2:p.Ser258=
XM_011533779.1:c.651T=	XP_011532081.1:p.Ser217=
XM_011533780.1:c.774-772T=	XP_011532082.1:n.774-772T=
XR_940447.1:n.719T=
NM_001355186.1:c.774T=	NP_001342115.1:p.Ser258=
NM_001365649.1:c.651T=	NP_001352578.1:p.Ser217=
NM_001365650.1:c.774-772T=	NP_001352579.1:n.774-772T=
NM_016006.5:c.774T=	NP_057090.2:p.Ser258=
NR_158560.1:n.785T=
NM_001355186.2:c.774T=	NP_001342115.1:p.Ser258=
NM_016006.6:c.774T= MANE Select	NP_057090.2:p.Ser258=