Canonical Allele Identifier: CA1360917231

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084788009
• gnomAD v4: 3-43717927-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717927G>A , CM000665.2:g.43717927G>A	GRCh38
NC_000003.11:g.43759419G>A , CM000665.1:g.43759419G>A	GRCh37
NC_000003.10:g.43734423G>A	NCBI36
NG_007090.3:g.32045G>A
NG_007090.5:g.32058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.359+70G>A
ENST00000454293.2:c.837+70G>A	ENSP00000412014.2:n.837+70G>A
ENST00000458276.7:c.774-516G>A	ENSP00000390849.3:n.774-516G>A
ENST00000463153.2:c.187+70G>A
ENST00000642351.1:c.837+70G>A	ENSP00000494478.1:n.837+70G>A
ENST00000643140.1:c.*322+70G>A	ENSP00000495588.1:n.*322+70G>A
ENST00000643477.1:c.*421+70G>A	ENSP00000496220.1:n.*421+70G>A
ENST00000643500.1:c.*161+70G>A	ENSP00000494735.1:n.*161+70G>A
ENST00000643520.1:n.1126+70G>A
ENST00000644371.2:c.960+70G>A MANE Select	ENSP00000495778.1:n.960+70G>A
ENST00000646378.1:c.*1010+70G>A	ENSP00000495826.1:n.*1010+70G>A
ENST00000646799.1:c.*248-516G>A	ENSP00000494829.1:n.*248-516G>A
ENST00000649763.1:c.960+70G>A	ENSP00000497701.1:n.960+70G>A
ENST00000413300.1:c.361+70G>A	ENSP00000392159.1:n.361+70G>A
ENST00000458276.6:c.960+70G>A	ENSP00000390849.2:n.960+70G>A
ENST00000463153.1:n.190+70G>A
NM_016006.4:c.960+70G>A	NP_057090.2:n.960+70G>A
XM_011533779.1:c.837+70G>A	XP_011532081.1:n.837+70G>A
XM_011533780.1:c.774-516G>A	XP_011532082.1:n.774-516G>A
XR_940447.1:n.905+70G>A
NM_001355186.1:c.960+70G>A	NP_001342115.1:n.960+70G>A
NM_001365649.1:c.837+70G>A	NP_001352578.1:n.837+70G>A
NM_001365650.1:c.774-516G>A	NP_001352579.1:n.774-516G>A
NM_016006.5:c.960+70G>A	NP_057090.2:n.960+70G>A
NR_158560.1:n.971+70G>A
NM_001355186.2:c.960+70G>A	NP_001342115.1:n.960+70G>A
NM_016006.6:c.960+70G>A MANE Select	NP_057090.2:n.960+70G>A