Canonical Allele Identifier: CA352347637

Gene: ABHD5

Linked Data

• dbSNP Id: rs147129794
• gnomAD v4: 3-43717776-C-A
• MyVariant Identifiers: chr3:g.43759268C>A (hg19) ; chr3:g.43717776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717776C>A , CM000665.2:g.43717776C>A	GRCh38
NC_000003.11:g.43759268C>A , CM000665.1:g.43759268C>A	GRCh37
NC_000003.10:g.43734272C>A	NCBI36
NG_007090.3:g.31894C>A
NG_007090.5:g.31907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.278C>A
ENST00000454293.2:c.756C>A	ENSP00000412014.2:p.Ile252=
ENST00000458276.7:c.774-667C>A	ENSP00000390849.3:n.774-667C>A
ENST00000463153.2:c.106C>A
ENST00000642351.1:c.756C>A	ENSP00000494478.1:p.Ile252=
ENST00000643140.1:c.*241C>A	ENSP00000495588.1:n.*241C>A
ENST00000643477.1:c.*340C>A	ENSP00000496220.1:n.*340C>A
ENST00000643500.1:c.*80C>A	ENSP00000494735.1:n.*80C>A
ENST00000643520.1:n.1045C>A
ENST00000644371.2:c.879C>A MANE Select	ENSP00000495778.1:p.Ile293=
ENST00000646378.1:c.*929C>A	ENSP00000495826.1:n.*929C>A
ENST00000646799.1:c.*248-667C>A	ENSP00000494829.1:n.*248-667C>A
ENST00000649763.1:c.879C>A	ENSP00000497701.1:p.Ile293=
ENST00000413300.1:c.280C>A	ENSP00000392159.1:p.Leu94Ile
ENST00000458276.6:c.879C>A	ENSP00000390849.2:p.Ile293=
ENST00000463153.1:n.109C>A
NM_016006.4:c.879C>A	NP_057090.2:p.Ile293=
XM_011533779.1:c.756C>A	XP_011532081.1:p.Ile252=
XM_011533780.1:c.774-667C>A	XP_011532082.1:n.774-667C>A
XR_940447.1:n.824C>A
NM_001355186.1:c.879C>A	NP_001342115.1:p.Ile293=
NM_001365649.1:c.756C>A	NP_001352578.1:p.Ile252=
NM_001365650.1:c.774-667C>A	NP_001352579.1:n.774-667C>A
NM_016006.5:c.879C>A	NP_057090.2:p.Ile293=
NR_158560.1:n.890C>A
NM_001355186.2:c.879C>A	NP_001342115.1:p.Ile293=
NM_016006.6:c.879C>A MANE Select	NP_057090.2:p.Ile293=