Canonical Allele Identifier: CA2341266

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2178266
• ClinVar RCV Id: RCV002595450
• dbSNP Id: rs144312381
• ExAC: 3:43740810 G / A
• gnomAD v2: 3-43740810-G-A
• gnomAD v3: 3-43699318-G-A
• gnomAD v4: 3-43699318-G-A
• MyVariant Identifiers: chr3:g.43740810G>A (hg19) ; chr3:g.43699318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699318G>A , CM000665.2:g.43699318G>A	GRCh38
NC_000003.11:g.43740810G>A , CM000665.1:g.43740810G>A	GRCh37
NC_000003.10:g.43715814G>A	NCBI36
NG_007090.3:g.13436G>A
NG_007090.5:g.13449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.90G>A	ENSP00000013894.2:p.Thr30=
ENST00000454293.2:c.-34G>A	ENSP00000412014.2:n.-34G>A
ENST00000458276.7:c.90G>A	ENSP00000390849.3:p.Thr30=
ENST00000642351.1:c.-34G>A	ENSP00000494478.1:n.-34G>A
ENST00000643140.1:c.90G>A	ENSP00000495588.1:p.Thr30=
ENST00000643477.1:c.90G>A	ENSP00000496220.1:p.Thr30=
ENST00000643500.1:c.90G>A	ENSP00000494735.1:p.Thr30=
ENST00000643520.1:n.138G>A
ENST00000644371.2:c.90G>A MANE Select	ENSP00000495778.1:p.Thr30=
ENST00000646378.1:c.*140G>A	ENSP00000495826.1:n.*140G>A
ENST00000646799.1:c.90G>A	ENSP00000494829.1:p.Thr30=
ENST00000649763.1:c.90G>A	ENSP00000497701.1:p.Thr30=
ENST00000013894.2:c.90G>A	ENSP00000013894.2:p.Thr30=
ENST00000454293.1:c.-34G>A	ENSP00000412014.1:n.-34G>A
ENST00000456453.5:c.-34G>A	ENSP00000391582.1:n.-34G>A
ENST00000458276.6:c.90G>A	ENSP00000390849.2:p.Thr30=
ENST00000486764.1:n.191G>A
NM_016006.4:c.90G>A	NP_057090.2:p.Thr30=
XM_011533779.1:c.-34G>A	XP_011532081.1:n.-34G>A
XM_011533780.1:c.90G>A	XP_011532082.1:p.Thr30=
XR_940447.1:n.147G>A
NM_001355186.1:c.90G>A	NP_001342115.1:p.Thr30=
NM_001365649.1:c.-34G>A	NP_001352578.1:n.-34G>A
NM_001365650.1:c.90G>A	NP_001352579.1:p.Thr30=
NM_016006.5:c.90G>A	NP_057090.2:p.Thr30=
NR_158560.1:n.213G>A
NM_001355186.2:c.90G>A	NP_001342115.1:p.Thr30=
NM_016006.6:c.90G>A MANE Select	NP_057090.2:p.Thr30=