Canonical Allele Identifier: CA352347834

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759339T>G (hg19) ; chr3:g.43717847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717847T>G , CM000665.2:g.43717847T>G	GRCh38
NC_000003.11:g.43759339T>G , CM000665.1:g.43759339T>G	GRCh37
NC_000003.10:g.43734343T>G	NCBI36
NG_007090.3:g.31965T>G
NG_007090.5:g.31978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.349T>G
ENST00000454293.2:c.827T>G	ENSP00000412014.2:p.Val276Gly
ENST00000458276.7:c.774-596T>G	ENSP00000390849.3:n.774-596T>G
ENST00000463153.2:c.177T>G
ENST00000642351.1:c.827T>G	ENSP00000494478.1:p.Val276Gly
ENST00000643140.1:c.*312T>G	ENSP00000495588.1:n.*312T>G
ENST00000643477.1:c.*411T>G	ENSP00000496220.1:n.*411T>G
ENST00000643500.1:c.*151T>G	ENSP00000494735.1:n.*151T>G
ENST00000643520.1:n.1116T>G
ENST00000644371.2:c.950T>G MANE Select	ENSP00000495778.1:p.Val317Gly
ENST00000646378.1:c.*1000T>G	ENSP00000495826.1:n.*1000T>G
ENST00000646799.1:c.*248-596T>G	ENSP00000494829.1:n.*248-596T>G
ENST00000649763.1:c.950T>G	ENSP00000497701.1:p.Val317Gly
ENST00000413300.1:c.351T>G	ENSP00000392159.1:p.Cys117Trp
ENST00000458276.6:c.950T>G	ENSP00000390849.2:p.Val317Gly
ENST00000463153.1:n.180T>G
NM_016006.4:c.950T>G	NP_057090.2:p.Val317Gly
XM_011533779.1:c.827T>G	XP_011532081.1:p.Val276Gly
XM_011533780.1:c.774-596T>G	XP_011532082.1:n.774-596T>G
XR_940447.1:n.895T>G
NM_001355186.1:c.950T>G	NP_001342115.1:p.Val317Gly
NM_001365649.1:c.827T>G	NP_001352578.1:p.Val276Gly
NM_001365650.1:c.774-596T>G	NP_001352579.1:n.774-596T>G
NM_016006.5:c.950T>G	NP_057090.2:p.Val317Gly
NR_158560.1:n.961T>G
NM_001355186.2:c.950T>G	NP_001342115.1:p.Val317Gly
NM_016006.6:c.950T>G MANE Select	NP_057090.2:p.Val317Gly