Canonical Allele Identifier: CA2756028557

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720875G>A , CM000665.2:g.43720875G>A	GRCh38
NC_000003.11:g.43762367G>A , CM000665.1:g.43762367G>A	GRCh37
NC_000003.10:g.43737371G>A	NCBI36
NG_007090.3:g.34993G>A
NG_007090.5:g.35006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2314G>A	ENSP00000412014.2:n.*29+2314G>A
ENST00000463153.2:c.306+2314G>A
ENST00000644371.2:c.*2343G>A MANE Select	ENSP00000495778.1:n.*2343G>A
ENST00000649763.1:c.*29+2314G>A	ENSP00000497701.1:n.*29+2314G>A
ENST00000463153.1:n.309+2314G>A
NM_016006.4:c.*2343G>A	NP_057090.2:n.*2343G>A
XM_011533779.1:c.*2343G>A	XP_011532081.1:n.*2343G>A
XM_011533780.1:c.*2369G>A	XP_011532082.1:n.*2369G>A
XR_940447.1:n.3338G>A
NM_001355186.1:c.*29+2314G>A	NP_001342115.1:n.*29+2314G>A
NM_001365649.1:c.*2343G>A	NP_001352578.1:n.*2343G>A
NM_001365650.1:c.*2369G>A	NP_001352579.1:n.*2369G>A
NM_016006.5:c.*2343G>A	NP_057090.2:n.*2343G>A
NR_158560.1:n.3404G>A
NM_001355186.2:c.*29+2314G>A	NP_001342115.1:n.*29+2314G>A
NM_016006.6:c.*2343G>A MANE Select	NP_057090.2:n.*2343G>A