Canonical Allele Identifier: CA2341388

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 345220
• ClinVar RCV Id: RCV000314476
• dbSNP Id: rs540791910
• ExAC: 3:43753334 C / A
• gnomAD v2: 3-43753334-C-A
• gnomAD v3: 3-43711842-C-A
• gnomAD v4: 3-43711842-C-A
• MyVariant Identifiers: chr3:g.43753334C>A (hg19) ; chr3:g.43711842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43711842C>A , CM000665.2:g.43711842C>A	GRCh38
NC_000003.11:g.43753334C>A , CM000665.1:g.43753334C>A	GRCh37
NC_000003.10:g.43728338C>A	NCBI36
NG_007090.3:g.25960C>A
NG_007090.5:g.25973C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000013894.3:c.*634C>A	ENSP00000013894.2:n.*634C>A
ENST00000413300.2:c.134C>A
ENST00000454293.2:c.517C>A	ENSP00000412014.2:p.Leu173Ile
ENST00000458276.7:c.640C>A	ENSP00000390849.3:p.Leu214Ile
ENST00000642351.1:c.517C>A	ENSP00000494478.1:p.Leu173Ile
ENST00000643140.1:c.*114C>A	ENSP00000495588.1:n.*114C>A
ENST00000643477.1:c.*213C>A	ENSP00000496220.1:n.*213C>A
ENST00000643500.1:c.640C>A	ENSP00000494735.1:p.Leu214Ile
ENST00000643520.1:n.806C>A
ENST00000644371.2:c.640C>A MANE Select	ENSP00000495778.1:p.Leu214Ile
ENST00000646378.1:c.*690C>A	ENSP00000495826.1:n.*690C>A
ENST00000646799.1:c.*114C>A	ENSP00000494829.1:n.*114C>A
ENST00000649763.1:c.640C>A	ENSP00000497701.1:p.Leu214Ile
ENST00000013894.2:c.*634C>A	ENSP00000013894.2:n.*634C>A
ENST00000413300.1:c.136C>A	ENSP00000392159.1:p.Leu46Ile
ENST00000458276.6:c.640C>A	ENSP00000390849.2:p.Leu214Ile
NM_016006.4:c.640C>A	NP_057090.2:p.Leu214Ile
XM_011533779.1:c.517C>A	XP_011532081.1:p.Leu173Ile
XM_011533780.1:c.640C>A	XP_011532082.1:p.Leu214Ile
XR_940447.1:n.697C>A
NM_001355186.1:c.640C>A	NP_001342115.1:p.Leu214Ile
NM_001365649.1:c.517C>A	NP_001352578.1:p.Leu173Ile
NM_001365650.1:c.640C>A	NP_001352579.1:p.Leu214Ile
NM_016006.5:c.640C>A	NP_057090.2:p.Leu214Ile
NR_158560.1:n.763C>A
NM_001355186.2:c.640C>A	NP_001342115.1:p.Leu214Ile
NM_016006.6:c.640C>A MANE Select	NP_057090.2:p.Leu214Ile