Canonical Allele Identifier: CA2341516

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43718428C>T , CM000665.2:g.43718428C>T	GRCh38
NC_000003.11:g.43759920C>T , CM000665.1:g.43759920C>T	GRCh37
NC_000003.10:g.43734924C>T	NCBI36
NG_007090.3:g.32546C>T
NG_007090.5:g.32559C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.961-15C>T MANE Select	NP_057090.2:n.961-15C>T
ENST00000644371.2:c.961-15C>T MANE Select	ENSP00000495778.1:n.961-15C>T
NM_001355186.1:c.961-15C>T	NP_001342115.1:n.961-15C>T
NM_001355186.2:c.961-15C>T	NP_001342115.1:n.961-15C>T
NM_001365649.1:c.838-15C>T	NP_001352578.1:n.838-15C>T
NM_001365650.1:c.774-15C>T	NP_001352579.1:n.774-15C>T
NM_016006.4:c.961-15C>T	NP_057090.2:n.961-15C>T
NM_016006.5:c.961-15C>T	NP_057090.2:n.961-15C>T
NR_158560.1:n.972-15C>T
ENST00000413300.1:c.362-15C>T	ENSP00000392159.1:n.362-15C>T
ENST00000413300.2:c.360-15C>T
ENST00000454293.2:c.838-15C>T	ENSP00000412014.2:n.838-15C>T
ENST00000458276.6:c.961-15C>T	ENSP00000390849.2:n.961-15C>T
ENST00000458276.7:c.774-15C>T	ENSP00000390849.3:n.774-15C>T
ENST00000463153.1:n.191-15C>T
ENST00000463153.2:c.188-15C>T
ENST00000642351.1:c.838-15C>T	ENSP00000494478.1:n.838-15C>T
ENST00000643140.1:c.*323-15C>T	ENSP00000495588.1:n.*323-15C>T
ENST00000643477.1:c.*422-15C>T	ENSP00000496220.1:n.*422-15C>T
ENST00000643500.1:c.*162-15C>T	ENSP00000494735.1:n.*162-15C>T
ENST00000643520.1:n.1127-15C>T
ENST00000646378.1:c.*1011-15C>T	ENSP00000495826.1:n.*1011-15C>T
ENST00000646799.1:c.*248-15C>T	ENSP00000494829.1:n.*248-15C>T
ENST00000649763.1:c.961-15C>T	ENSP00000497701.1:n.961-15C>T
XM_011533779.1:c.838-15C>T	XP_011532081.1:n.838-15C>T
XM_011533780.1:c.774-15C>T	XP_011532082.1:n.774-15C>T
XR_940447.1:n.906-15C>T