Canonical Allele Identifier: CA352347578

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084785227
• MyVariant Identifiers: chr3:g.43759246C>A (hg19) ; chr3:g.43717754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717754C>A , CM000665.2:g.43717754C>A	GRCh38
NC_000003.11:g.43759246C>A , CM000665.1:g.43759246C>A	GRCh37
NC_000003.10:g.43734250C>A	NCBI36
NG_007090.3:g.31872C>A
NG_007090.5:g.31885C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-12C>A
ENST00000454293.2:c.734C>A	ENSP00000412014.2:p.Pro245His
ENST00000458276.7:c.774-689C>A	ENSP00000390849.3:n.774-689C>A
ENST00000463153.2:c.84C>A
ENST00000642351.1:c.734C>A	ENSP00000494478.1:p.Pro245His
ENST00000643140.1:c.*219C>A	ENSP00000495588.1:n.*219C>A
ENST00000643477.1:c.*318C>A	ENSP00000496220.1:n.*318C>A
ENST00000643500.1:c.*58C>A	ENSP00000494735.1:n.*58C>A
ENST00000643520.1:n.1023C>A
ENST00000644371.2:c.857C>A MANE Select	ENSP00000495778.1:p.Pro286His
ENST00000646378.1:c.*907C>A	ENSP00000495826.1:n.*907C>A
ENST00000646799.1:c.*248-689C>A	ENSP00000494829.1:n.*248-689C>A
ENST00000649763.1:c.857C>A	ENSP00000497701.1:p.Pro286His
ENST00000413300.1:c.270-12C>A	ENSP00000392159.1:n.270-12C>A
ENST00000458276.6:c.857C>A	ENSP00000390849.2:p.Pro286His
ENST00000463153.1:n.87C>A
NM_016006.4:c.857C>A	NP_057090.2:p.Pro286His
XM_011533779.1:c.734C>A	XP_011532081.1:p.Pro245His
XM_011533780.1:c.774-689C>A	XP_011532082.1:n.774-689C>A
XR_940447.1:n.802C>A
NM_001355186.1:c.857C>A	NP_001342115.1:p.Pro286His
NM_001365649.1:c.734C>A	NP_001352578.1:p.Pro245His
NM_001365650.1:c.774-689C>A	NP_001352579.1:n.774-689C>A
NM_016006.5:c.857C>A	NP_057090.2:p.Pro286His
NR_158560.1:n.868C>A
NM_001355186.2:c.857C>A	NP_001342115.1:p.Pro286His
NM_016006.6:c.857C>A MANE Select	NP_057090.2:p.Pro286His