Canonical Allele Identifier: CA352347392

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759162G>C (hg19) ; chr3:g.43717670G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717670G>C , CM000665.2:g.43717670G>C	GRCh38
NC_000003.11:g.43759162G>C , CM000665.1:g.43759162G>C	GRCh37
NC_000003.10:g.43734166G>C	NCBI36
NG_007090.3:g.31788G>C
NG_007090.5:g.31801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-96G>C
ENST00000454293.2:c.651-1G>C	ENSP00000412014.2:n.651-1G>C
ENST00000458276.7:c.774-773G>C	ENSP00000390849.3:n.774-773G>C
ENST00000642351.1:c.651-1G>C	ENSP00000494478.1:n.651-1G>C
ENST00000643140.1:c.*136-1G>C	ENSP00000495588.1:n.*136-1G>C
ENST00000643477.1:c.*235-1G>C	ENSP00000496220.1:n.*235-1G>C
ENST00000643500.1:c.662-1G>C	ENSP00000494735.1:n.662-1G>C
ENST00000643520.1:n.940-1G>C
ENST00000644371.2:c.774-1G>C MANE Select	ENSP00000495778.1:n.774-1G>C
ENST00000646378.1:c.*824-1G>C	ENSP00000495826.1:n.*824-1G>C
ENST00000646799.1:c.*248-773G>C	ENSP00000494829.1:n.*248-773G>C
ENST00000649763.1:c.774-1G>C	ENSP00000497701.1:n.774-1G>C
ENST00000413300.1:c.270-96G>C	ENSP00000392159.1:n.270-96G>C
ENST00000458276.6:c.774-1G>C	ENSP00000390849.2:n.774-1G>C
ENST00000463153.1:n.3G>C
NM_016006.4:c.774-1G>C	NP_057090.2:n.774-1G>C
XM_011533779.1:c.651-1G>C	XP_011532081.1:n.651-1G>C
XM_011533780.1:c.774-773G>C	XP_011532082.1:n.774-773G>C
XR_940447.1:n.719-1G>C
NM_001355186.1:c.774-1G>C	NP_001342115.1:n.774-1G>C
NM_001365649.1:c.651-1G>C	NP_001352578.1:n.651-1G>C
NM_001365650.1:c.774-773G>C	NP_001352579.1:n.774-773G>C
NM_016006.5:c.774-1G>C	NP_057090.2:n.774-1G>C
NR_158560.1:n.785-1G>C
NM_001355186.2:c.774-1G>C	NP_001342115.1:n.774-1G>C
NM_016006.6:c.774-1G>C MANE Select	NP_057090.2:n.774-1G>C