Canonical Allele Identifier: CA2341468

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 1922646
• ClinVar RCV Id: RCV002617649
• dbSNP Id: rs756873141
• ExAC: 3:43759153 G / A
• gnomAD v2: 3-43759153-G-A
• gnomAD v4: 3-43717661-G-A
• MyVariant Identifiers: chr3:g.43759153G>A (hg19) ; chr3:g.43717661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717661G>A , CM000665.2:g.43717661G>A	GRCh38
NC_000003.11:g.43759153G>A , CM000665.1:g.43759153G>A	GRCh37
NC_000003.10:g.43734157G>A	NCBI36
NG_007090.3:g.31779G>A
NG_007090.5:g.31792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-105G>A
ENST00000454293.2:c.651-10G>A	ENSP00000412014.2:n.651-10G>A
ENST00000458276.7:c.774-782G>A	ENSP00000390849.3:n.774-782G>A
ENST00000642351.1:c.651-10G>A	ENSP00000494478.1:n.651-10G>A
ENST00000643140.1:c.*136-10G>A	ENSP00000495588.1:n.*136-10G>A
ENST00000643477.1:c.*235-10G>A	ENSP00000496220.1:n.*235-10G>A
ENST00000643500.1:c.662-10G>A	ENSP00000494735.1:n.662-10G>A
ENST00000643520.1:n.940-10G>A
ENST00000644371.2:c.774-10G>A MANE Select	ENSP00000495778.1:n.774-10G>A
ENST00000646378.1:c.*824-10G>A	ENSP00000495826.1:n.*824-10G>A
ENST00000646799.1:c.*248-782G>A	ENSP00000494829.1:n.*248-782G>A
ENST00000649763.1:c.774-10G>A	ENSP00000497701.1:n.774-10G>A
ENST00000413300.1:c.270-105G>A	ENSP00000392159.1:n.270-105G>A
ENST00000458276.6:c.774-10G>A	ENSP00000390849.2:n.774-10G>A
NM_016006.4:c.774-10G>A	NP_057090.2:n.774-10G>A
XM_011533779.1:c.651-10G>A	XP_011532081.1:n.651-10G>A
XM_011533780.1:c.774-782G>A	XP_011532082.1:n.774-782G>A
XR_940447.1:n.719-10G>A
NM_001355186.1:c.774-10G>A	NP_001342115.1:n.774-10G>A
NM_001365649.1:c.651-10G>A	NP_001352578.1:n.651-10G>A
NM_001365650.1:c.774-782G>A	NP_001352579.1:n.774-782G>A
NM_016006.5:c.774-10G>A	NP_057090.2:n.774-10G>A
NR_158560.1:n.785-10G>A
NM_001355186.2:c.774-10G>A	NP_001342115.1:n.774-10G>A
NM_016006.6:c.774-10G>A MANE Select	NP_057090.2:n.774-10G>A