Canonical Allele Identifier: CA352347703

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717800-T-C
• MyVariant Identifiers: chr3:g.43759292T>C (hg19) ; chr3:g.43717800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717800T>C , CM000665.2:g.43717800T>C	GRCh38
NC_000003.11:g.43759292T>C , CM000665.1:g.43759292T>C	GRCh37
NC_000003.10:g.43734296T>C	NCBI36
NG_007090.3:g.31918T>C
NG_007090.5:g.31931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.302T>C
ENST00000454293.2:c.780T>C	ENSP00000412014.2:p.Asp260=
ENST00000458276.7:c.774-643T>C	ENSP00000390849.3:n.774-643T>C
ENST00000463153.2:c.130T>C
ENST00000642351.1:c.780T>C	ENSP00000494478.1:p.Asp260=
ENST00000643140.1:c.*265T>C	ENSP00000495588.1:n.*265T>C
ENST00000643477.1:c.*364T>C	ENSP00000496220.1:n.*364T>C
ENST00000643500.1:c.*104T>C	ENSP00000494735.1:n.*104T>C
ENST00000643520.1:n.1069T>C
ENST00000644371.2:c.903T>C MANE Select	ENSP00000495778.1:p.Asp301=
ENST00000646378.1:c.*953T>C	ENSP00000495826.1:n.*953T>C
ENST00000646799.1:c.*248-643T>C	ENSP00000494829.1:n.*248-643T>C
ENST00000649763.1:c.903T>C	ENSP00000497701.1:p.Asp301=
ENST00000413300.1:c.304T>C	ENSP00000392159.1:p.Trp102Arg
ENST00000458276.6:c.903T>C	ENSP00000390849.2:p.Asp301=
ENST00000463153.1:n.133T>C
NM_016006.4:c.903T>C	NP_057090.2:p.Asp301=
XM_011533779.1:c.780T>C	XP_011532081.1:p.Asp260=
XM_011533780.1:c.774-643T>C	XP_011532082.1:n.774-643T>C
XR_940447.1:n.848T>C
NM_001355186.1:c.903T>C	NP_001342115.1:p.Asp301=
NM_001365649.1:c.780T>C	NP_001352578.1:p.Asp260=
NM_001365650.1:c.774-643T>C	NP_001352579.1:n.774-643T>C
NM_016006.5:c.903T>C	NP_057090.2:p.Asp301=
NR_158560.1:n.914T>C
NM_001355186.2:c.903T>C	NP_001342115.1:p.Asp301=
NM_016006.6:c.903T>C MANE Select	NP_057090.2:p.Asp301=