Canonical Allele Identifier: CA2341482

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 1913964
• ClinVar RCV Id: RCV002590100
• dbSNP Id: rs554355585
• ExAC: 3:43759230 A / G
• gnomAD v2: 3-43759230-A-G
• gnomAD v3: 3-43717738-A-G
• gnomAD v4: 3-43717738-A-G
• MyVariant Identifiers: chr3:g.43759230A>G (hg19) ; chr3:g.43717738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717738A>G , CM000665.2:g.43717738A>G	GRCh38
NC_000003.11:g.43759230A>G , CM000665.1:g.43759230A>G	GRCh37
NC_000003.10:g.43734234A>G	NCBI36
NG_007090.3:g.31856A>G
NG_007090.5:g.31869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-28A>G
ENST00000454293.2:c.718A>G	ENSP00000412014.2:p.Ile240Val
ENST00000458276.7:c.774-705A>G	ENSP00000390849.3:n.774-705A>G
ENST00000463153.2:c.68A>G
ENST00000642351.1:c.718A>G	ENSP00000494478.1:p.Ile240Val
ENST00000643140.1:c.*203A>G	ENSP00000495588.1:n.*203A>G
ENST00000643477.1:c.*302A>G	ENSP00000496220.1:n.*302A>G
ENST00000643500.1:c.*42A>G	ENSP00000494735.1:n.*42A>G
ENST00000643520.1:n.1007A>G
ENST00000644371.2:c.841A>G MANE Select	ENSP00000495778.1:p.Ile281Val
ENST00000646378.1:c.*891A>G	ENSP00000495826.1:n.*891A>G
ENST00000646799.1:c.*248-705A>G	ENSP00000494829.1:n.*248-705A>G
ENST00000649763.1:c.841A>G	ENSP00000497701.1:p.Ile281Val
ENST00000413300.1:c.270-28A>G	ENSP00000392159.1:n.270-28A>G
ENST00000458276.6:c.841A>G	ENSP00000390849.2:p.Ile281Val
ENST00000463153.1:n.71A>G
NM_016006.4:c.841A>G	NP_057090.2:p.Ile281Val
XM_011533779.1:c.718A>G	XP_011532081.1:p.Ile240Val
XM_011533780.1:c.774-705A>G	XP_011532082.1:n.774-705A>G
XR_940447.1:n.786A>G
NM_001355186.1:c.841A>G	NP_001342115.1:p.Ile281Val
NM_001365649.1:c.718A>G	NP_001352578.1:p.Ile240Val
NM_001365650.1:c.774-705A>G	NP_001352579.1:n.774-705A>G
NM_016006.5:c.841A>G	NP_057090.2:p.Ile281Val
NR_158560.1:n.852A>G
NM_001355186.2:c.841A>G	NP_001342115.1:p.Ile281Val
NM_016006.6:c.841A>G MANE Select	NP_057090.2:p.Ile281Val