Canonical Allele Identifier: CA352344864

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2628741
• ClinVar RCV Id: RCV003420738
• gnomAD v4: 3-43699362-G-A
• MyVariant Identifiers: chr3:g.43740854G>A (hg19) ; chr3:g.43699362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699362G>A , CM000665.2:g.43699362G>A	GRCh38
NC_000003.11:g.43740854G>A , CM000665.1:g.43740854G>A	GRCh37
NC_000003.10:g.43715858G>A	NCBI36
NG_007090.3:g.13480G>A
NG_007090.5:g.13493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133+1G>A	ENSP00000013894.2:n.133+1G>A
ENST00000454293.2:c.10+1G>A	ENSP00000412014.2:n.10+1G>A
ENST00000458276.7:c.133+1G>A	ENSP00000390849.3:n.133+1G>A
ENST00000642351.1:c.10+1G>A	ENSP00000494478.1:n.10+1G>A
ENST00000643140.1:c.133+1G>A	ENSP00000495588.1:n.133+1G>A
ENST00000643477.1:c.133+1G>A	ENSP00000496220.1:n.133+1G>A
ENST00000643500.1:c.133+1G>A	ENSP00000494735.1:n.133+1G>A
ENST00000643520.1:n.181+1G>A
ENST00000644371.2:c.133+1G>A MANE Select	ENSP00000495778.1:n.133+1G>A
ENST00000646378.1:c.*183+1G>A	ENSP00000495826.1:n.*183+1G>A
ENST00000646799.1:c.133+1G>A	ENSP00000494829.1:n.133+1G>A
ENST00000649763.1:c.133+1G>A	ENSP00000497701.1:n.133+1G>A
ENST00000013894.2:c.133+1G>A	ENSP00000013894.2:n.133+1G>A
ENST00000454293.1:c.10+1G>A	ENSP00000412014.1:n.10+1G>A
ENST00000456453.5:c.10+1G>A	ENSP00000391582.1:n.10+1G>A
ENST00000458276.6:c.133+1G>A	ENSP00000390849.2:n.133+1G>A
ENST00000486764.1:n.235G>A
NM_016006.4:c.133+1G>A	NP_057090.2:n.133+1G>A
XM_011533779.1:c.10+1G>A	XP_011532081.1:n.10+1G>A
XM_011533780.1:c.133+1G>A	XP_011532082.1:n.133+1G>A
XR_940447.1:n.190+1G>A
NM_001355186.1:c.133+1G>A	NP_001342115.1:n.133+1G>A
NM_001365649.1:c.10+1G>A	NP_001352578.1:n.10+1G>A
NM_001365650.1:c.133+1G>A	NP_001352579.1:n.133+1G>A
NM_016006.5:c.133+1G>A	NP_057090.2:n.133+1G>A
NR_158560.1:n.256+1G>A
NM_001355186.2:c.133+1G>A	NP_001342115.1:n.133+1G>A
NM_016006.6:c.133+1G>A MANE Select	NP_057090.2:n.133+1G>A