Canonical Allele Identifier: CA352347852

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759345C>T (hg19) ; chr3:g.43717853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717853C>T , CM000665.2:g.43717853C>T	GRCh38
NC_000003.11:g.43759345C>T , CM000665.1:g.43759345C>T	GRCh37
NC_000003.10:g.43734349C>T	NCBI36
NG_007090.3:g.31971C>T
NG_007090.5:g.31984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.355C>T
ENST00000454293.2:c.833C>T	ENSP00000412014.2:p.Thr278Ile
ENST00000458276.7:c.774-590C>T	ENSP00000390849.3:n.774-590C>T
ENST00000463153.2:c.183C>T
ENST00000642351.1:c.833C>T	ENSP00000494478.1:p.Thr278Ile
ENST00000643140.1:c.*318C>T	ENSP00000495588.1:n.*318C>T
ENST00000643477.1:c.*417C>T	ENSP00000496220.1:n.*417C>T
ENST00000643500.1:c.*157C>T	ENSP00000494735.1:n.*157C>T
ENST00000643520.1:n.1122C>T
ENST00000644371.2:c.956C>T MANE Select	ENSP00000495778.1:p.Thr319Ile
ENST00000646378.1:c.*1006C>T	ENSP00000495826.1:n.*1006C>T
ENST00000646799.1:c.*248-590C>T	ENSP00000494829.1:n.*248-590C>T
ENST00000649763.1:c.956C>T	ENSP00000497701.1:p.Thr319Ile
ENST00000413300.1:c.357C>T	ENSP00000392159.1:p.Asp119=
ENST00000458276.6:c.956C>T	ENSP00000390849.2:p.Thr319Ile
ENST00000463153.1:n.186C>T
NM_016006.4:c.956C>T	NP_057090.2:p.Thr319Ile
XM_011533779.1:c.833C>T	XP_011532081.1:p.Thr278Ile
XM_011533780.1:c.774-590C>T	XP_011532082.1:n.774-590C>T
XR_940447.1:n.901C>T
NM_001355186.1:c.956C>T	NP_001342115.1:p.Thr319Ile
NM_001365649.1:c.833C>T	NP_001352578.1:p.Thr278Ile
NM_001365650.1:c.774-590C>T	NP_001352579.1:n.774-590C>T
NM_016006.5:c.956C>T	NP_057090.2:p.Thr319Ile
NR_158560.1:n.967C>T
NM_001355186.2:c.956C>T	NP_001342115.1:p.Thr319Ile
NM_016006.6:c.956C>T MANE Select	NP_057090.2:p.Thr319Ile