Canonical Allele Identifier: CA2580069852

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2091142
• ClinVar RCV Id: RCV003013461
• gnomAD v4: 3-43717663-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717663C>G , CM000665.2:g.43717663C>G	GRCh38
NC_000003.11:g.43759155C>G , CM000665.1:g.43759155C>G	GRCh37
NC_000003.10:g.43734159C>G	NCBI36
NG_007090.3:g.31781C>G
NG_007090.5:g.31794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-103C>G
ENST00000454293.2:c.651-8C>G	ENSP00000412014.2:n.651-8C>G
ENST00000458276.7:c.774-780C>G	ENSP00000390849.3:n.774-780C>G
ENST00000642351.1:c.651-8C>G	ENSP00000494478.1:n.651-8C>G
ENST00000643140.1:c.*136-8C>G	ENSP00000495588.1:n.*136-8C>G
ENST00000643477.1:c.*235-8C>G	ENSP00000496220.1:n.*235-8C>G
ENST00000643500.1:c.662-8C>G	ENSP00000494735.1:n.662-8C>G
ENST00000643520.1:n.940-8C>G
ENST00000644371.2:c.774-8C>G MANE Select	ENSP00000495778.1:n.774-8C>G
ENST00000646378.1:c.*824-8C>G	ENSP00000495826.1:n.*824-8C>G
ENST00000646799.1:c.*248-780C>G	ENSP00000494829.1:n.*248-780C>G
ENST00000649763.1:c.774-8C>G	ENSP00000497701.1:n.774-8C>G
ENST00000413300.1:c.270-103C>G	ENSP00000392159.1:n.270-103C>G
ENST00000458276.6:c.774-8C>G	ENSP00000390849.2:n.774-8C>G
NM_016006.4:c.774-8C>G	NP_057090.2:n.774-8C>G
XM_011533779.1:c.651-8C>G	XP_011532081.1:n.651-8C>G
XM_011533780.1:c.774-780C>G	XP_011532082.1:n.774-780C>G
XR_940447.1:n.719-8C>G
NM_001355186.1:c.774-8C>G	NP_001342115.1:n.774-8C>G
NM_001365649.1:c.651-8C>G	NP_001352578.1:n.651-8C>G
NM_001365650.1:c.774-780C>G	NP_001352579.1:n.774-780C>G
NM_016006.5:c.774-8C>G	NP_057090.2:n.774-8C>G
NR_158560.1:n.785-8C>G
NM_001355186.2:c.774-8C>G	NP_001342115.1:n.774-8C>G
NM_016006.6:c.774-8C>G MANE Select	NP_057090.2:n.774-8C>G