Canonical Allele Identifier: CA352347519

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2175346
• ClinVar RCV Id: RCV002579153
• dbSNP Id: rs1381238730
• gnomAD v2: 3-43759218-A-G
• gnomAD v3: 3-43717726-A-G
• gnomAD v4: 3-43717726-A-G
• COSMIC: COSM1617608
• MyVariant Identifiers: chr3:g.43759218A>G (hg19) ; chr3:g.43717726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717726A>G , CM000665.2:g.43717726A>G	GRCh38
NC_000003.11:g.43759218A>G , CM000665.1:g.43759218A>G	GRCh37
NC_000003.10:g.43734222A>G	NCBI36
NG_007090.3:g.31844A>G
NG_007090.5:g.31857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-40A>G
ENST00000454293.2:c.706A>G	ENSP00000412014.2:p.Met236Val
ENST00000458276.7:c.774-717A>G	ENSP00000390849.3:n.774-717A>G
ENST00000463153.2:c.56A>G
ENST00000642351.1:c.706A>G	ENSP00000494478.1:p.Met236Val
ENST00000643140.1:c.*191A>G	ENSP00000495588.1:n.*191A>G
ENST00000643477.1:c.*290A>G	ENSP00000496220.1:n.*290A>G
ENST00000643500.1:c.*30A>G	ENSP00000494735.1:n.*30A>G
ENST00000643520.1:n.995A>G
ENST00000644371.2:c.829A>G MANE Select	ENSP00000495778.1:p.Met277Val
ENST00000646378.1:c.*879A>G	ENSP00000495826.1:n.*879A>G
ENST00000646799.1:c.*248-717A>G	ENSP00000494829.1:n.*248-717A>G
ENST00000649763.1:c.829A>G	ENSP00000497701.1:p.Met277Val
ENST00000413300.1:c.270-40A>G	ENSP00000392159.1:n.270-40A>G
ENST00000458276.6:c.829A>G	ENSP00000390849.2:p.Met277Val
ENST00000463153.1:n.59A>G
NM_016006.4:c.829A>G	NP_057090.2:p.Met277Val
XM_011533779.1:c.706A>G	XP_011532081.1:p.Met236Val
XM_011533780.1:c.774-717A>G	XP_011532082.1:n.774-717A>G
XR_940447.1:n.774A>G
NM_001355186.1:c.829A>G	NP_001342115.1:p.Met277Val
NM_001365649.1:c.706A>G	NP_001352578.1:p.Met236Val
NM_001365650.1:c.774-717A>G	NP_001352579.1:n.774-717A>G
NM_016006.5:c.829A>G	NP_057090.2:p.Met277Val
NR_158560.1:n.840A>G
NM_001355186.2:c.829A>G	NP_001342115.1:p.Met277Val
NM_016006.6:c.829A>G MANE Select	NP_057090.2:p.Met277Val