Canonical Allele Identifier: CA352347860
Gene: ABHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717856T>G , CM000665.2:g.43717856T>G GRCh38
NC_000003.11:g.43759348T>G , CM000665.1:g.43759348T>G GRCh37
NC_000003.10:g.43734352T>G NCBI36
NG_007090.3:g.31974T>G
NG_007090.5:g.31987T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.358T>G
ENST00000454293.2:c.836T>G ENSP00000412014.2:p.Ile279Arg
ENST00000458276.7:c.774-587T>G ENSP00000390849.3:n.774-587T>G
ENST00000463153.2:c.186T>G
ENST00000642351.1:c.836T>G ENSP00000494478.1:p.Ile279Arg
ENST00000643140.1:c.*321T>G ENSP00000495588.1:n.*321T>G
ENST00000643477.1:c.*420T>G ENSP00000496220.1:n.*420T>G
ENST00000643500.1:c.*160T>G ENSP00000494735.1:n.*160T>G
ENST00000643520.1:n.1125T>G
ENST00000644371.2:c.959T>G MANE Select ENSP00000495778.1:p.Ile320Arg
ENST00000646378.1:c.*1009T>G ENSP00000495826.1:n.*1009T>G
ENST00000646799.1:c.*248-587T>G ENSP00000494829.1:n.*248-587T>G
ENST00000649763.1:c.959T>G ENSP00000497701.1:p.Ile320Arg
ENST00000413300.1:c.360T>G ENSP00000392159.1:p.Asn120Lys
ENST00000458276.6:c.959T>G ENSP00000390849.2:p.Ile320Arg
ENST00000463153.1:n.189T>G
NM_016006.4:c.959T>G NP_057090.2:p.Ile320Arg
XM_011533779.1:c.836T>G XP_011532081.1:p.Ile279Arg
XM_011533780.1:c.774-587T>G XP_011532082.1:n.774-587T>G
XR_940447.1:n.904T>G
NM_001355186.1:c.959T>G NP_001342115.1:p.Ile320Arg
NM_001365649.1:c.836T>G NP_001352578.1:p.Ile279Arg
NM_001365650.1:c.774-587T>G NP_001352579.1:n.774-587T>G
NM_016006.5:c.959T>G NP_057090.2:p.Ile320Arg
NR_158560.1:n.970T>G
NM_001355186.2:c.959T>G NP_001342115.1:p.Ile320Arg
NM_016006.6:c.959T>G MANE Select NP_057090.2:p.Ile320Arg