Canonical Allele Identifier: CA352347591

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717760-T-A
• MyVariant Identifiers: chr3:g.43759252T>A (hg19) ; chr3:g.43717760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717760T>A , CM000665.2:g.43717760T>A	GRCh38
NC_000003.11:g.43759252T>A , CM000665.1:g.43759252T>A	GRCh37
NC_000003.10:g.43734256T>A	NCBI36
NG_007090.3:g.31878T>A
NG_007090.5:g.31891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-6T>A
ENST00000454293.2:c.740T>A	ENSP00000412014.2:p.Ile247Asn
ENST00000458276.7:c.774-683T>A	ENSP00000390849.3:n.774-683T>A
ENST00000463153.2:c.90T>A
ENST00000642351.1:c.740T>A	ENSP00000494478.1:p.Ile247Asn
ENST00000643140.1:c.*225T>A	ENSP00000495588.1:n.*225T>A
ENST00000643477.1:c.*324T>A	ENSP00000496220.1:n.*324T>A
ENST00000643500.1:c.*64T>A	ENSP00000494735.1:n.*64T>A
ENST00000643520.1:n.1029T>A
ENST00000644371.2:c.863T>A MANE Select	ENSP00000495778.1:p.Ile288Asn
ENST00000646378.1:c.*913T>A	ENSP00000495826.1:n.*913T>A
ENST00000646799.1:c.*248-683T>A	ENSP00000494829.1:n.*248-683T>A
ENST00000649763.1:c.863T>A	ENSP00000497701.1:p.Ile288Asn
ENST00000413300.1:c.270-6T>A	ENSP00000392159.1:n.270-6T>A
ENST00000458276.6:c.863T>A	ENSP00000390849.2:p.Ile288Asn
ENST00000463153.1:n.93T>A
NM_016006.4:c.863T>A	NP_057090.2:p.Ile288Asn
XM_011533779.1:c.740T>A	XP_011532081.1:p.Ile247Asn
XM_011533780.1:c.774-683T>A	XP_011532082.1:n.774-683T>A
XR_940447.1:n.808T>A
NM_001355186.1:c.863T>A	NP_001342115.1:p.Ile288Asn
NM_001365649.1:c.740T>A	NP_001352578.1:p.Ile247Asn
NM_001365650.1:c.774-683T>A	NP_001352579.1:n.774-683T>A
NM_016006.5:c.863T>A	NP_057090.2:p.Ile288Asn
NR_158560.1:n.874T>A
NM_001355186.2:c.863T>A	NP_001342115.1:p.Ile288Asn
NM_016006.6:c.863T>A MANE Select	NP_057090.2:p.Ile288Asn