Canonical Allele Identifier: CA2341480
Gene: ABHD5 HGNC NCBI

Linked Data

dbSNP Id: rs370301465
gnomAD v2: 3-43759227-C-G
gnomAD v3: 3-43717735-C-G
gnomAD v4: 3-43717735-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717735C>G , CM000665.2:g.43717735C>G GRCh38
NC_000003.11:g.43759227C>G , CM000665.1:g.43759227C>G GRCh37
NC_000003.10:g.43734231C>G NCBI36
NG_007090.3:g.31853C>G
NG_007090.5:g.31866C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-31C>G
ENST00000454293.2:c.715C>G ENSP00000412014.2:p.Arg239Gly
ENST00000458276.7:c.774-708C>G ENSP00000390849.3:n.774-708C>G
ENST00000463153.2:c.65C>G
ENST00000642351.1:c.715C>G ENSP00000494478.1:p.Arg239Gly
ENST00000643140.1:c.*200C>G ENSP00000495588.1:n.*200C>G
ENST00000643477.1:c.*299C>G ENSP00000496220.1:n.*299C>G
ENST00000643500.1:c.*39C>G ENSP00000494735.1:n.*39C>G
ENST00000643520.1:n.1004C>G
ENST00000644371.2:c.838C>G MANE Select ENSP00000495778.1:p.Arg280Gly
ENST00000646378.1:c.*888C>G ENSP00000495826.1:n.*888C>G
ENST00000646799.1:c.*248-708C>G ENSP00000494829.1:n.*248-708C>G
ENST00000649763.1:c.838C>G ENSP00000497701.1:p.Arg280Gly
ENST00000413300.1:c.270-31C>G ENSP00000392159.1:n.270-31C>G
ENST00000458276.6:c.838C>G ENSP00000390849.2:p.Arg280Gly
ENST00000463153.1:n.68C>G
NM_016006.4:c.838C>G NP_057090.2:p.Arg280Gly
XM_011533779.1:c.715C>G XP_011532081.1:p.Arg239Gly
XM_011533780.1:c.774-708C>G XP_011532082.1:n.774-708C>G
XR_940447.1:n.783C>G
NM_001355186.1:c.838C>G NP_001342115.1:p.Arg280Gly
NM_001365649.1:c.715C>G NP_001352578.1:p.Arg239Gly
NM_001365650.1:c.774-708C>G NP_001352579.1:n.774-708C>G
NM_016006.5:c.838C>G NP_057090.2:p.Arg280Gly
NR_158560.1:n.849C>G
NM_001355186.2:c.838C>G NP_001342115.1:p.Arg280Gly
NM_016006.6:c.838C>G MANE Select NP_057090.2:p.Arg280Gly