Canonical Allele Identifier: CA352347466

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759194C>G (hg19) ; chr3:g.43717702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717702C>G , CM000665.2:g.43717702C>G	GRCh38
NC_000003.11:g.43759194C>G , CM000665.1:g.43759194C>G	GRCh37
NC_000003.10:g.43734198C>G	NCBI36
NG_007090.3:g.31820C>G
NG_007090.5:g.31833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-64C>G
ENST00000454293.2:c.682C>G	ENSP00000412014.2:p.Pro228Ala
ENST00000458276.7:c.774-741C>G	ENSP00000390849.3:n.774-741C>G
ENST00000463153.2:c.32C>G
ENST00000642351.1:c.682C>G	ENSP00000494478.1:p.Pro228Ala
ENST00000643140.1:c.*167C>G	ENSP00000495588.1:n.*167C>G
ENST00000643477.1:c.*266C>G	ENSP00000496220.1:n.*266C>G
ENST00000643500.1:c.*6C>G	ENSP00000494735.1:n.*6C>G
ENST00000643520.1:n.971C>G
ENST00000644371.2:c.805C>G MANE Select	ENSP00000495778.1:p.Pro269Ala
ENST00000646378.1:c.*855C>G	ENSP00000495826.1:n.*855C>G
ENST00000646799.1:c.*248-741C>G	ENSP00000494829.1:n.*248-741C>G
ENST00000649763.1:c.805C>G	ENSP00000497701.1:p.Pro269Ala
ENST00000413300.1:c.270-64C>G	ENSP00000392159.1:n.270-64C>G
ENST00000458276.6:c.805C>G	ENSP00000390849.2:p.Pro269Ala
ENST00000463153.1:n.35C>G
NM_016006.4:c.805C>G	NP_057090.2:p.Pro269Ala
XM_011533779.1:c.682C>G	XP_011532081.1:p.Pro228Ala
XM_011533780.1:c.774-741C>G	XP_011532082.1:n.774-741C>G
XR_940447.1:n.750C>G
NM_001355186.1:c.805C>G	NP_001342115.1:p.Pro269Ala
NM_001365649.1:c.682C>G	NP_001352578.1:p.Pro228Ala
NM_001365650.1:c.774-741C>G	NP_001352579.1:n.774-741C>G
NM_016006.5:c.805C>G	NP_057090.2:p.Pro269Ala
NR_158560.1:n.816C>G
NM_001355186.2:c.805C>G	NP_001342115.1:p.Pro269Ala
NM_016006.6:c.805C>G MANE Select	NP_057090.2:p.Pro269Ala