Canonical Allele Identifier: CA1360918459
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720771A= , CM000665.2:g.43720771A= GRCh38
NC_000003.11:g.43762263A= , CM000665.1:g.43762263A= GRCh37
NC_000003.10:g.43737267A= NCBI36
NG_007090.3:g.34889A=
NG_007090.5:g.34902A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000454293.2:c.*29+2210A= ENSP00000412014.2:n.*29+2210A=
ENST00000463153.2:c.306+2210A=
ENST00000643477.1:c.*2750A= ENSP00000496220.1:n.*2750A=
ENST00000644371.2:c.*2239A= MANE Select ENSP00000495778.1:n.*2239A=
ENST00000649763.1:c.*29+2210A= ENSP00000497701.1:n.*29+2210A=
ENST00000463153.1:n.309+2210A=
NM_016006.4:c.*2239A= NP_057090.2:n.*2239A=
XM_011533779.1:c.*2239A= XP_011532081.1:n.*2239A=
XM_011533780.1:c.*2265A= XP_011532082.1:n.*2265A=
XR_940447.1:n.3234A=
NM_001355186.1:c.*29+2210A= NP_001342115.1:n.*29+2210A=
NM_001365649.1:c.*2239A= NP_001352578.1:n.*2239A=
NM_001365650.1:c.*2265A= NP_001352579.1:n.*2265A=
NM_016006.5:c.*2239A= NP_057090.2:n.*2239A=
NR_158560.1:n.3300A=
NM_001355186.2:c.*29+2210A= NP_001342115.1:n.*29+2210A=
NM_016006.6:c.*2239A= MANE Select NP_057090.2:n.*2239A=