Canonical Allele Identifier: CA352347727

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2182195
• ClinVar RCV Id: RCV002596046
• dbSNP Id: rs1239719847
• gnomAD v2: 3-43759300-C-T
• gnomAD v3: 3-43717808-C-T
• gnomAD v4: 3-43717808-C-T
• MyVariant Identifiers: chr3:g.43759300C>T (hg19) ; chr3:g.43717808C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717808C>T , CM000665.2:g.43717808C>T	GRCh38
NC_000003.11:g.43759300C>T , CM000665.1:g.43759300C>T	GRCh37
NC_000003.10:g.43734304C>T	NCBI36
NG_007090.3:g.31926C>T
NG_007090.5:g.31939C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.310C>T
ENST00000454293.2:c.788C>T	ENSP00000412014.2:p.Ser263Phe
ENST00000458276.7:c.774-635C>T	ENSP00000390849.3:n.774-635C>T
ENST00000463153.2:c.138C>T
ENST00000642351.1:c.788C>T	ENSP00000494478.1:p.Ser263Phe
ENST00000643140.1:c.*273C>T	ENSP00000495588.1:n.*273C>T
ENST00000643477.1:c.*372C>T	ENSP00000496220.1:n.*372C>T
ENST00000643500.1:c.*112C>T	ENSP00000494735.1:n.*112C>T
ENST00000643520.1:n.1077C>T
ENST00000644371.2:c.911C>T MANE Select	ENSP00000495778.1:p.Ser304Phe
ENST00000646378.1:c.*961C>T	ENSP00000495826.1:n.*961C>T
ENST00000646799.1:c.*248-635C>T	ENSP00000494829.1:n.*248-635C>T
ENST00000649763.1:c.911C>T	ENSP00000497701.1:p.Ser304Phe
ENST00000413300.1:c.312C>T	ENSP00000392159.1:p.Phe104=
ENST00000458276.6:c.911C>T	ENSP00000390849.2:p.Ser304Phe
ENST00000463153.1:n.141C>T
NM_016006.4:c.911C>T	NP_057090.2:p.Ser304Phe
XM_011533779.1:c.788C>T	XP_011532081.1:p.Ser263Phe
XM_011533780.1:c.774-635C>T	XP_011532082.1:n.774-635C>T
XR_940447.1:n.856C>T
NM_001355186.1:c.911C>T	NP_001342115.1:p.Ser304Phe
NM_001365649.1:c.788C>T	NP_001352578.1:p.Ser263Phe
NM_001365650.1:c.774-635C>T	NP_001352579.1:n.774-635C>T
NM_016006.5:c.911C>T	NP_057090.2:p.Ser304Phe
NR_158560.1:n.922C>T
NM_001355186.2:c.911C>T	NP_001342115.1:p.Ser304Phe
NM_016006.6:c.911C>T MANE Select	NP_057090.2:p.Ser304Phe