Canonical Allele Identifier: CA352345750

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43743964T>G (hg19) ; chr3:g.43702472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43702472T>G , CM000665.2:g.43702472T>G	GRCh38
NC_000003.11:g.43743964T>G , CM000665.1:g.43743964T>G	GRCh37
NC_000003.10:g.43718968T>G	NCBI36
NG_007090.3:g.16590T>G
NG_007090.5:g.16603T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.*385T>G	ENSP00000013894.2:n.*385T>G
ENST00000454293.2:c.268T>G	ENSP00000412014.2:p.Phe90Val
ENST00000458276.7:c.391T>G	ENSP00000390849.3:p.Phe131Val
ENST00000642351.1:c.268T>G	ENSP00000494478.1:p.Phe90Val
ENST00000643140.1:c.133+3111T>G	ENSP00000495588.1:n.133+3111T>G
ENST00000643477.1:c.219T>G	ENSP00000496220.1:p.Ser73Arg
ENST00000643500.1:c.391T>G	ENSP00000494735.1:p.Phe131Val
ENST00000643520.1:n.439T>G
ENST00000644371.2:c.391T>G MANE Select	ENSP00000495778.1:p.Phe131Val
ENST00000646378.1:c.*441T>G	ENSP00000495826.1:n.*441T>G
ENST00000646799.1:c.133+3111T>G	ENSP00000494829.1:n.133+3111T>G
ENST00000649763.1:c.391T>G	ENSP00000497701.1:p.Phe131Val
ENST00000013894.2:c.*385T>G	ENSP00000013894.2:n.*385T>G
ENST00000456453.5:c.268T>G	ENSP00000391582.1:p.Phe90Val
ENST00000458276.6:c.391T>G	ENSP00000390849.2:p.Phe131Val
NM_016006.4:c.391T>G	NP_057090.2:p.Phe131Val
XM_011533779.1:c.268T>G	XP_011532081.1:p.Phe90Val
XM_011533780.1:c.391T>G	XP_011532082.1:p.Phe131Val
XR_940447.1:n.448T>G
NM_001355186.1:c.391T>G	NP_001342115.1:p.Phe131Val
NM_001365649.1:c.268T>G	NP_001352578.1:p.Phe90Val
NM_001365650.1:c.391T>G	NP_001352579.1:p.Phe131Val
NM_016006.5:c.391T>G	NP_057090.2:p.Phe131Val
NR_158560.1:n.514T>G
NM_001355186.2:c.391T>G	NP_001342115.1:p.Phe131Val
NM_016006.6:c.391T>G MANE Select	NP_057090.2:p.Phe131Val