Canonical Allele Identifier: CA352347528

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2109778
• ClinVar RCV Id: RCV003020078
• dbSNP Id: rs1439511213
• gnomAD v2: 3-43759221-C-G
• gnomAD v4: 3-43717729-C-G
• MyVariant Identifiers: chr3:g.43759221C>G (hg19) ; chr3:g.43717729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717729C>G , CM000665.2:g.43717729C>G	GRCh38
NC_000003.11:g.43759221C>G , CM000665.1:g.43759221C>G	GRCh37
NC_000003.10:g.43734225C>G	NCBI36
NG_007090.3:g.31847C>G
NG_007090.5:g.31860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-37C>G
ENST00000454293.2:c.709C>G	ENSP00000412014.2:p.Leu237Val
ENST00000458276.7:c.774-714C>G	ENSP00000390849.3:n.774-714C>G
ENST00000463153.2:c.59C>G
ENST00000642351.1:c.709C>G	ENSP00000494478.1:p.Leu237Val
ENST00000643140.1:c.*194C>G	ENSP00000495588.1:n.*194C>G
ENST00000643477.1:c.*293C>G	ENSP00000496220.1:n.*293C>G
ENST00000643500.1:c.*33C>G	ENSP00000494735.1:n.*33C>G
ENST00000643520.1:n.998C>G
ENST00000644371.2:c.832C>G MANE Select	ENSP00000495778.1:p.Leu278Val
ENST00000646378.1:c.*882C>G	ENSP00000495826.1:n.*882C>G
ENST00000646799.1:c.*248-714C>G	ENSP00000494829.1:n.*248-714C>G
ENST00000649763.1:c.832C>G	ENSP00000497701.1:p.Leu278Val
ENST00000413300.1:c.270-37C>G	ENSP00000392159.1:n.270-37C>G
ENST00000458276.6:c.832C>G	ENSP00000390849.2:p.Leu278Val
ENST00000463153.1:n.62C>G
NM_016006.4:c.832C>G	NP_057090.2:p.Leu278Val
XM_011533779.1:c.709C>G	XP_011532081.1:p.Leu237Val
XM_011533780.1:c.774-714C>G	XP_011532082.1:n.774-714C>G
XR_940447.1:n.777C>G
NM_001355186.1:c.832C>G	NP_001342115.1:p.Leu278Val
NM_001365649.1:c.709C>G	NP_001352578.1:p.Leu237Val
NM_001365650.1:c.774-714C>G	NP_001352579.1:n.774-714C>G
NM_016006.5:c.832C>G	NP_057090.2:p.Leu278Val
NR_158560.1:n.843C>G
NM_001355186.2:c.832C>G	NP_001342115.1:p.Leu278Val
NM_016006.6:c.832C>G MANE Select	NP_057090.2:p.Leu278Val