Canonical Allele Identifier: CA2341308

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43702339A>C , CM000665.2:g.43702339A>C	GRCh38
NC_000003.11:g.43743831A>C , CM000665.1:g.43743831A>C	GRCh37
NC_000003.10:g.43718835A>C	NCBI36
NG_007090.3:g.16457A>C
NG_007090.5:g.16470A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.258A>C MANE Select	NP_057090.2:p.Gly86=
ENST00000644371.2:c.258A>C MANE Select	ENSP00000495778.1:p.Gly86=
NM_001355186.1:c.258A>C	NP_001342115.1:p.Gly86=
NM_001355186.2:c.258A>C	NP_001342115.1:p.Gly86=
NM_001365649.1:c.135A>C	NP_001352578.1:p.Gly45=
NM_001365650.1:c.258A>C	NP_001352579.1:p.Gly86=
NM_016006.4:c.258A>C	NP_057090.2:p.Gly86=
NM_016006.5:c.258A>C	NP_057090.2:p.Gly86=
NR_158560.1:n.381A>C
ENST00000013894.2:c.*252A>C	ENSP00000013894.2:n.*252A>C
ENST00000013894.3:c.*252A>C	ENSP00000013894.2:n.*252A>C
ENST00000454293.1:c.135A>C	ENSP00000412014.1:p.Gly45=
ENST00000454293.2:c.135A>C	ENSP00000412014.2:p.Gly45=
ENST00000456453.5:c.135A>C	ENSP00000391582.1:p.Gly45=
ENST00000458276.6:c.258A>C	ENSP00000390849.2:p.Gly86=
ENST00000458276.7:c.258A>C	ENSP00000390849.3:p.Gly86=
ENST00000642351.1:c.135A>C	ENSP00000494478.1:p.Gly45=
ENST00000643140.1:c.133+2978A>C	ENSP00000495588.1:n.133+2978A>C
ENST00000643477.1:c.134-48A>C	ENSP00000496220.1:n.134-48A>C
ENST00000643500.1:c.258A>C	ENSP00000494735.1:p.Gly86=
ENST00000643520.1:n.306A>C
ENST00000646378.1:c.*308A>C	ENSP00000495826.1:n.*308A>C
ENST00000646799.1:c.133+2978A>C	ENSP00000494829.1:n.133+2978A>C
ENST00000649763.1:c.258A>C	ENSP00000497701.1:p.Gly86=
XM_011533779.1:c.135A>C	XP_011532081.1:p.Gly45=
XM_011533780.1:c.258A>C	XP_011532082.1:p.Gly86=
XR_940447.1:n.315A>C