Canonical Allele Identifier: CA352347215

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43714985C>T , CM000665.2:g.43714985C>T	GRCh38
NC_000003.11:g.43756477C>T , CM000665.1:g.43756477C>T	GRCh37
NC_000003.10:g.43731481C>T	NCBI36
NG_007090.3:g.29103C>T
NG_007090.5:g.29116C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.700C>T MANE Select	NP_057090.2:p.Arg234Ter
ENST00000644371.2:c.700C>T MANE Select	ENSP00000495778.1:p.Arg234Ter
NM_001355186.1:c.700C>T	NP_001342115.1:p.Arg234Ter
NM_001355186.2:c.700C>T	NP_001342115.1:p.Arg234Ter
NM_001365649.1:c.577C>T	NP_001352578.1:p.Arg193Ter
NM_001365650.1:c.700C>T	NP_001352579.1:p.Arg234Ter
NM_016006.4:c.700C>T	NP_057090.2:p.Arg234Ter
NM_016006.5:c.700C>T	NP_057090.2:p.Arg234Ter
NR_158560.1:n.785-2686C>T
ENST00000413300.1:c.196C>T	ENSP00000392159.1:p.Arg66Ter
ENST00000413300.2:c.194C>T
ENST00000454293.2:c.577C>T	ENSP00000412014.2:p.Arg193Ter
ENST00000458276.6:c.700C>T	ENSP00000390849.2:p.Arg234Ter
ENST00000458276.7:c.700C>T	ENSP00000390849.3:p.Arg234Ter
ENST00000642351.1:c.577C>T	ENSP00000494478.1:p.Arg193Ter
ENST00000643140.1:c.*136-2686C>T	ENSP00000495588.1:n.*136-2686C>T
ENST00000643477.1:c.*235-2686C>T	ENSP00000496220.1:n.*235-2686C>T
ENST00000643500.1:c.662-2686C>T	ENSP00000494735.1:n.662-2686C>T
ENST00000643520.1:n.866C>T
ENST00000646378.1:c.*750C>T	ENSP00000495826.1:n.*750C>T
ENST00000646799.1:c.*174C>T	ENSP00000494829.1:n.*174C>T
ENST00000649763.1:c.700C>T	ENSP00000497701.1:p.Arg234Ter
XM_011533779.1:c.577C>T	XP_011532081.1:p.Arg193Ter
XM_011533780.1:c.700C>T	XP_011532082.1:p.Arg234Ter
XR_940447.1:n.719-2686C>T