Canonical Allele Identifier: CA352347642

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759270T>G (hg19) ; chr3:g.43717778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717778T>G , CM000665.2:g.43717778T>G	GRCh38
NC_000003.11:g.43759270T>G , CM000665.1:g.43759270T>G	GRCh37
NC_000003.10:g.43734274T>G	NCBI36
NG_007090.3:g.31896T>G
NG_007090.5:g.31909T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.280T>G
ENST00000454293.2:c.758T>G	ENSP00000412014.2:p.Phe253Cys
ENST00000458276.7:c.774-665T>G	ENSP00000390849.3:n.774-665T>G
ENST00000463153.2:c.108T>G
ENST00000642351.1:c.758T>G	ENSP00000494478.1:p.Phe253Cys
ENST00000643140.1:c.*243T>G	ENSP00000495588.1:n.*243T>G
ENST00000643477.1:c.*342T>G	ENSP00000496220.1:n.*342T>G
ENST00000643500.1:c.*82T>G	ENSP00000494735.1:n.*82T>G
ENST00000643520.1:n.1047T>G
ENST00000644371.2:c.881T>G MANE Select	ENSP00000495778.1:p.Phe294Cys
ENST00000646378.1:c.*931T>G	ENSP00000495826.1:n.*931T>G
ENST00000646799.1:c.*248-665T>G	ENSP00000494829.1:n.*248-665T>G
ENST00000649763.1:c.881T>G	ENSP00000497701.1:p.Phe294Cys
ENST00000413300.1:c.282T>G	ENSP00000392159.1:p.Leu94=
ENST00000458276.6:c.881T>G	ENSP00000390849.2:p.Phe294Cys
ENST00000463153.1:n.111T>G
NM_016006.4:c.881T>G	NP_057090.2:p.Phe294Cys
XM_011533779.1:c.758T>G	XP_011532081.1:p.Phe253Cys
XM_011533780.1:c.774-665T>G	XP_011532082.1:n.774-665T>G
XR_940447.1:n.826T>G
NM_001355186.1:c.881T>G	NP_001342115.1:p.Phe294Cys
NM_001365649.1:c.758T>G	NP_001352578.1:p.Phe253Cys
NM_001365650.1:c.774-665T>G	NP_001352579.1:n.774-665T>G
NM_016006.5:c.881T>G	NP_057090.2:p.Phe294Cys
NR_158560.1:n.892T>G
NM_001355186.2:c.881T>G	NP_001342115.1:p.Phe294Cys
NM_016006.6:c.881T>G MANE Select	NP_057090.2:p.Phe294Cys