Canonical Allele Identifier: CA2665311578

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43720813-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720813A>G , CM000665.2:g.43720813A>G	GRCh38
NC_000003.11:g.43762305A>G , CM000665.1:g.43762305A>G	GRCh37
NC_000003.10:g.43737309A>G	NCBI36
NG_007090.3:g.34931A>G
NG_007090.5:g.34944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2252A>G	ENSP00000412014.2:n.*29+2252A>G
ENST00000463153.2:c.306+2252A>G
ENST00000644371.2:c.*2281A>G MANE Select	ENSP00000495778.1:n.*2281A>G
ENST00000649763.1:c.*29+2252A>G	ENSP00000497701.1:n.*29+2252A>G
ENST00000463153.1:n.309+2252A>G
NM_016006.4:c.*2281A>G	NP_057090.2:n.*2281A>G
XM_011533779.1:c.*2281A>G	XP_011532081.1:n.*2281A>G
XM_011533780.1:c.*2307A>G	XP_011532082.1:n.*2307A>G
XR_940447.1:n.3276A>G
NM_001355186.1:c.*29+2252A>G	NP_001342115.1:n.*29+2252A>G
NM_001365649.1:c.*2281A>G	NP_001352578.1:n.*2281A>G
NM_001365650.1:c.*2307A>G	NP_001352579.1:n.*2307A>G
NM_016006.5:c.*2281A>G	NP_057090.2:n.*2281A>G
NR_158560.1:n.3342A>G
NM_001355186.2:c.*29+2252A>G	NP_001342115.1:n.*29+2252A>G
NM_016006.6:c.*2281A>G MANE Select	NP_057090.2:n.*2281A>G