Canonical Allele Identifier: CA2756028818

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720691T>A , CM000665.2:g.43720691T>A	GRCh38
NC_000003.11:g.43762183T>A , CM000665.1:g.43762183T>A	GRCh37
NC_000003.10:g.43737187T>A	NCBI36
NG_007090.3:g.34809T>A
NG_007090.5:g.34822T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2130T>A	ENSP00000412014.2:n.*29+2130T>A
ENST00000463153.2:c.306+2130T>A
ENST00000643477.1:c.*2670T>A	ENSP00000496220.1:n.*2670T>A
ENST00000644371.2:c.*2159T>A MANE Select	ENSP00000495778.1:n.*2159T>A
ENST00000649763.1:c.*29+2130T>A	ENSP00000497701.1:n.*29+2130T>A
ENST00000463153.1:n.309+2130T>A
NM_016006.4:c.*2159T>A	NP_057090.2:n.*2159T>A
XM_011533779.1:c.*2159T>A	XP_011532081.1:n.*2159T>A
XM_011533780.1:c.*2185T>A	XP_011532082.1:n.*2185T>A
XR_940447.1:n.3154T>A
NM_001355186.1:c.*29+2130T>A	NP_001342115.1:n.*29+2130T>A
NM_001365649.1:c.*2159T>A	NP_001352578.1:n.*2159T>A
NM_001365650.1:c.*2185T>A	NP_001352579.1:n.*2185T>A
NM_016006.5:c.*2159T>A	NP_057090.2:n.*2159T>A
NR_158560.1:n.3220T>A
NM_001355186.2:c.*29+2130T>A	NP_001342115.1:n.*29+2130T>A
NM_016006.6:c.*2159T>A MANE Select	NP_057090.2:n.*2159T>A