Canonical Allele Identifier: CA352347559

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759237A>T (hg19) ; chr3:g.43717745A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717745A>T , CM000665.2:g.43717745A>T	GRCh38
NC_000003.11:g.43759237A>T , CM000665.1:g.43759237A>T	GRCh37
NC_000003.10:g.43734241A>T	NCBI36
NG_007090.3:g.31863A>T
NG_007090.5:g.31876A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-21A>T
ENST00000454293.2:c.725A>T	ENSP00000412014.2:p.Lys242Ile
ENST00000458276.7:c.774-698A>T	ENSP00000390849.3:n.774-698A>T
ENST00000463153.2:c.75A>T
ENST00000642351.1:c.725A>T	ENSP00000494478.1:p.Lys242Ile
ENST00000643140.1:c.*210A>T	ENSP00000495588.1:n.*210A>T
ENST00000643477.1:c.*309A>T	ENSP00000496220.1:n.*309A>T
ENST00000643500.1:c.*49A>T	ENSP00000494735.1:n.*49A>T
ENST00000643520.1:n.1014A>T
ENST00000644371.2:c.848A>T MANE Select	ENSP00000495778.1:p.Lys283Ile
ENST00000646378.1:c.*898A>T	ENSP00000495826.1:n.*898A>T
ENST00000646799.1:c.*248-698A>T	ENSP00000494829.1:n.*248-698A>T
ENST00000649763.1:c.848A>T	ENSP00000497701.1:p.Lys283Ile
ENST00000413300.1:c.270-21A>T	ENSP00000392159.1:n.270-21A>T
ENST00000458276.6:c.848A>T	ENSP00000390849.2:p.Lys283Ile
ENST00000463153.1:n.78A>T
NM_016006.4:c.848A>T	NP_057090.2:p.Lys283Ile
XM_011533779.1:c.725A>T	XP_011532081.1:p.Lys242Ile
XM_011533780.1:c.774-698A>T	XP_011532082.1:n.774-698A>T
XR_940447.1:n.793A>T
NM_001355186.1:c.848A>T	NP_001342115.1:p.Lys283Ile
NM_001365649.1:c.725A>T	NP_001352578.1:p.Lys242Ile
NM_001365650.1:c.774-698A>T	NP_001352579.1:n.774-698A>T
NM_016006.5:c.848A>T	NP_057090.2:p.Lys283Ile
NR_158560.1:n.859A>T
NM_001355186.2:c.848A>T	NP_001342115.1:p.Lys283Ile
NM_016006.6:c.848A>T MANE Select	NP_057090.2:p.Lys283Ile