Canonical Allele Identifier: CA2580069848

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2019195
• ClinVar RCV Id: RCV002846919
• gnomAD v4: 3-43699256-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699256T>C , CM000665.2:g.43699256T>C	GRCh38
NC_000003.11:g.43740748T>C , CM000665.1:g.43740748T>C	GRCh37
NC_000003.10:g.43715752T>C	NCBI36
NG_007090.3:g.13374T>C
NG_007090.5:g.13387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000013894.3:c.48-20T>C	ENSP00000013894.2:n.48-20T>C
ENST00000454293.2:c.-76-20T>C	ENSP00000412014.2:n.-76-20T>C
ENST00000458276.7:c.48-20T>C	ENSP00000390849.3:n.48-20T>C
ENST00000642351.1:c.-76-20T>C	ENSP00000494478.1:n.-76-20T>C
ENST00000643140.1:c.48-20T>C	ENSP00000495588.1:n.48-20T>C
ENST00000643477.1:c.48-20T>C	ENSP00000496220.1:n.48-20T>C
ENST00000643500.1:c.48-20T>C	ENSP00000494735.1:n.48-20T>C
ENST00000643520.1:n.96-20T>C
ENST00000644371.2:c.48-20T>C MANE Select	ENSP00000495778.1:n.48-20T>C
ENST00000646378.1:c.*98-20T>C	ENSP00000495826.1:n.*98-20T>C
ENST00000646799.1:c.48-20T>C	ENSP00000494829.1:n.48-20T>C
ENST00000649763.1:c.48-20T>C	ENSP00000497701.1:n.48-20T>C
ENST00000013894.2:c.48-20T>C	ENSP00000013894.2:n.48-20T>C
ENST00000454293.1:c.-76-20T>C	ENSP00000412014.1:n.-76-20T>C
ENST00000456453.5:c.-76-20T>C	ENSP00000391582.1:n.-76-20T>C
ENST00000458276.6:c.48-20T>C	ENSP00000390849.2:n.48-20T>C
ENST00000486764.1:n.149-20T>C
NM_016006.4:c.48-20T>C	NP_057090.2:n.48-20T>C
XM_011533779.1:c.-76-20T>C	XP_011532081.1:n.-76-20T>C
XM_011533780.1:c.48-20T>C	XP_011532082.1:n.48-20T>C
XR_940447.1:n.105-20T>C
NM_001355186.1:c.48-20T>C	NP_001342115.1:n.48-20T>C
NM_001365649.1:c.-76-20T>C	NP_001352578.1:n.-76-20T>C
NM_001365650.1:c.48-20T>C	NP_001352579.1:n.48-20T>C
NM_016006.5:c.48-20T>C	NP_057090.2:n.48-20T>C
NR_158560.1:n.171-20T>C
NM_001355186.2:c.48-20T>C	NP_001342115.1:n.48-20T>C
NM_016006.6:c.48-20T>C MANE Select	NP_057090.2:n.48-20T>C