Canonical Allele Identifier: CA1047352362

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084782844
• gnomAD v3: 3-43717631-C-T
• gnomAD v4: 3-43717631-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717631C>T , CM000665.2:g.43717631C>T	GRCh38
NC_000003.11:g.43759123C>T , CM000665.1:g.43759123C>T	GRCh37
NC_000003.10:g.43734127C>T	NCBI36
NG_007090.3:g.31749C>T
NG_007090.5:g.31762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-135C>T
ENST00000454293.2:c.651-40C>T	ENSP00000412014.2:n.651-40C>T
ENST00000458276.7:c.774-812C>T	ENSP00000390849.3:n.774-812C>T
ENST00000642351.1:c.651-40C>T	ENSP00000494478.1:n.651-40C>T
ENST00000643140.1:c.*136-40C>T	ENSP00000495588.1:n.*136-40C>T
ENST00000643477.1:c.*235-40C>T	ENSP00000496220.1:n.*235-40C>T
ENST00000643500.1:c.662-40C>T	ENSP00000494735.1:n.662-40C>T
ENST00000643520.1:n.940-40C>T
ENST00000644371.2:c.774-40C>T MANE Select	ENSP00000495778.1:n.774-40C>T
ENST00000646378.1:c.*824-40C>T	ENSP00000495826.1:n.*824-40C>T
ENST00000646799.1:c.*248-812C>T	ENSP00000494829.1:n.*248-812C>T
ENST00000649763.1:c.774-40C>T	ENSP00000497701.1:n.774-40C>T
ENST00000413300.1:c.270-135C>T	ENSP00000392159.1:n.270-135C>T
ENST00000458276.6:c.774-40C>T	ENSP00000390849.2:n.774-40C>T
NM_016006.4:c.774-40C>T	NP_057090.2:n.774-40C>T
XM_011533779.1:c.651-40C>T	XP_011532081.1:n.651-40C>T
XM_011533780.1:c.774-812C>T	XP_011532082.1:n.774-812C>T
XR_940447.1:n.719-40C>T
NM_001355186.1:c.774-40C>T	NP_001342115.1:n.774-40C>T
NM_001365649.1:c.651-40C>T	NP_001352578.1:n.651-40C>T
NM_001365650.1:c.774-812C>T	NP_001352579.1:n.774-812C>T
NM_016006.5:c.774-40C>T	NP_057090.2:n.774-40C>T
NR_158560.1:n.785-40C>T
NM_001355186.2:c.774-40C>T	NP_001342115.1:n.774-40C>T
NM_016006.6:c.774-40C>T MANE Select	NP_057090.2:n.774-40C>T