Canonical Allele Identifier: CA352347428

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759178C>G (hg19) ; chr3:g.43717686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717686C>G , CM000665.2:g.43717686C>G	GRCh38
NC_000003.11:g.43759178C>G , CM000665.1:g.43759178C>G	GRCh37
NC_000003.10:g.43734182C>G	NCBI36
NG_007090.3:g.31804C>G
NG_007090.5:g.31817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-80C>G
ENST00000454293.2:c.666C>G	ENSP00000412014.2:p.Phe222Leu
ENST00000458276.7:c.774-757C>G	ENSP00000390849.3:n.774-757C>G
ENST00000463153.2:c.16C>G
ENST00000642351.1:c.666C>G	ENSP00000494478.1:p.Phe222Leu
ENST00000643140.1:c.*151C>G	ENSP00000495588.1:n.*151C>G
ENST00000643477.1:c.*250C>G	ENSP00000496220.1:n.*250C>G
ENST00000643500.1:c.677C>G	ENSP00000494735.1:p.Ser226Ter
ENST00000643520.1:n.955C>G
ENST00000644371.2:c.789C>G MANE Select	ENSP00000495778.1:p.Phe263Leu
ENST00000646378.1:c.*839C>G	ENSP00000495826.1:n.*839C>G
ENST00000646799.1:c.*248-757C>G	ENSP00000494829.1:n.*248-757C>G
ENST00000649763.1:c.789C>G	ENSP00000497701.1:p.Phe263Leu
ENST00000413300.1:c.270-80C>G	ENSP00000392159.1:n.270-80C>G
ENST00000458276.6:c.789C>G	ENSP00000390849.2:p.Phe263Leu
ENST00000463153.1:n.19C>G
NM_016006.4:c.789C>G	NP_057090.2:p.Phe263Leu
XM_011533779.1:c.666C>G	XP_011532081.1:p.Phe222Leu
XM_011533780.1:c.774-757C>G	XP_011532082.1:n.774-757C>G
XR_940447.1:n.734C>G
NM_001355186.1:c.789C>G	NP_001342115.1:p.Phe263Leu
NM_001365649.1:c.666C>G	NP_001352578.1:p.Phe222Leu
NM_001365650.1:c.774-757C>G	NP_001352579.1:n.774-757C>G
NM_016006.5:c.789C>G	NP_057090.2:p.Phe263Leu
NR_158560.1:n.800C>G
NM_001355186.2:c.789C>G	NP_001342115.1:p.Phe263Leu
NM_016006.6:c.789C>G MANE Select	NP_057090.2:p.Phe263Leu