Canonical Allele Identifier: CA352347495

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2077797
• ClinVar RCV Id: RCV002985703
• MyVariant Identifiers: chr3:g.43759207C>A (hg19) ; chr3:g.43717715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717715C>A , CM000665.2:g.43717715C>A	GRCh38
NC_000003.11:g.43759207C>A , CM000665.1:g.43759207C>A	GRCh37
NC_000003.10:g.43734211C>A	NCBI36
NG_007090.3:g.31833C>A
NG_007090.5:g.31846C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.268-51C>A
ENST00000454293.2:c.695C>A	ENSP00000412014.2:p.Ala232Glu
ENST00000458276.7:c.774-728C>A	ENSP00000390849.3:n.774-728C>A
ENST00000463153.2:c.45C>A
ENST00000642351.1:c.695C>A	ENSP00000494478.1:p.Ala232Glu
ENST00000643140.1:c.*180C>A	ENSP00000495588.1:n.*180C>A
ENST00000643477.1:c.*279C>A	ENSP00000496220.1:n.*279C>A
ENST00000643500.1:c.*19C>A	ENSP00000494735.1:n.*19C>A
ENST00000643520.1:n.984C>A
ENST00000644371.2:c.818C>A MANE Select	ENSP00000495778.1:p.Ala273Glu
ENST00000646378.1:c.*868C>A	ENSP00000495826.1:n.*868C>A
ENST00000646799.1:c.*248-728C>A	ENSP00000494829.1:n.*248-728C>A
ENST00000649763.1:c.818C>A	ENSP00000497701.1:p.Ala273Glu
ENST00000413300.1:c.270-51C>A	ENSP00000392159.1:n.270-51C>A
ENST00000458276.6:c.818C>A	ENSP00000390849.2:p.Ala273Glu
ENST00000463153.1:n.48C>A
NM_016006.4:c.818C>A	NP_057090.2:p.Ala273Glu
XM_011533779.1:c.695C>A	XP_011532081.1:p.Ala232Glu
XM_011533780.1:c.774-728C>A	XP_011532082.1:n.774-728C>A
XR_940447.1:n.763C>A
NM_001355186.1:c.818C>A	NP_001342115.1:p.Ala273Glu
NM_001365649.1:c.695C>A	NP_001352578.1:p.Ala232Glu
NM_001365650.1:c.774-728C>A	NP_001352579.1:n.774-728C>A
NM_016006.5:c.818C>A	NP_057090.2:p.Ala273Glu
NR_158560.1:n.829C>A
NM_001355186.2:c.818C>A	NP_001342115.1:p.Ala273Glu
NM_016006.6:c.818C>A MANE Select	NP_057090.2:p.Ala273Glu