Canonical Allele Identifier: CA2341340

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43702525C>T , CM000665.2:g.43702525C>T	GRCh38
NC_000003.11:g.43744017C>T , CM000665.1:g.43744017C>T	GRCh37
NC_000003.10:g.43719021C>T	NCBI36
NG_007090.3:g.16643C>T
NG_007090.5:g.16656C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.444C>T MANE Select	NP_057090.2:p.Ile148=
ENST00000644371.2:c.444C>T MANE Select	ENSP00000495778.1:p.Ile148=
NM_001355186.1:c.444C>T	NP_001342115.1:p.Ile148=
NM_001355186.2:c.444C>T	NP_001342115.1:p.Ile148=
NM_001365649.1:c.321C>T	NP_001352578.1:p.Ile107=
NM_001365650.1:c.444C>T	NP_001352579.1:p.Ile148=
NM_016006.4:c.444C>T	NP_057090.2:p.Ile148=
NM_016006.5:c.444C>T	NP_057090.2:p.Ile148=
NR_158560.1:n.567C>T
ENST00000013894.2:c.*438C>T	ENSP00000013894.2:n.*438C>T
ENST00000013894.3:c.*438C>T	ENSP00000013894.2:n.*438C>T
ENST00000454293.2:c.321C>T	ENSP00000412014.2:p.Ile107=
ENST00000456453.5:c.321C>T	ENSP00000391582.1:p.Ile107=
ENST00000458276.6:c.444C>T	ENSP00000390849.2:p.Ile148=
ENST00000458276.7:c.444C>T	ENSP00000390849.3:p.Ile148=
ENST00000642351.1:c.321C>T	ENSP00000494478.1:p.Ile107=
ENST00000643140.1:c.133+3164C>T	ENSP00000495588.1:n.133+3164C>T
ENST00000643477.1:c.*17C>T	ENSP00000496220.1:n.*17C>T
ENST00000643500.1:c.444C>T	ENSP00000494735.1:p.Ile148=
ENST00000643520.1:n.492C>T
ENST00000646378.1:c.*494C>T	ENSP00000495826.1:n.*494C>T
ENST00000646799.1:c.133+3164C>T	ENSP00000494829.1:n.133+3164C>T
ENST00000649763.1:c.444C>T	ENSP00000497701.1:p.Ile148=
XM_011533779.1:c.321C>T	XP_011532081.1:p.Ile107=
XM_011533780.1:c.444C>T	XP_011532082.1:p.Ile148=
XR_940447.1:n.501C>T