Canonical Allele Identifier: CA1360918348
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720500T= , CM000665.2:g.43720500T= GRCh38
NC_000003.11:g.43761992T= , CM000665.1:g.43761992T= GRCh37
NC_000003.10:g.43736996T= NCBI36
NG_007090.3:g.34618T=
NG_007090.5:g.34631T=

Transcript Alleles

HGVS Amino-acid change
ENST00000454293.2:c.*29+1939T= ENSP00000412014.2:n.*29+1939T=
ENST00000463153.2:c.306+1939T=
ENST00000643477.1:c.*2479T= ENSP00000496220.1:n.*2479T=
ENST00000644371.2:c.*1968T= MANE Select ENSP00000495778.1:n.*1968T=
ENST00000649763.1:c.*29+1939T= ENSP00000497701.1:n.*29+1939T=
ENST00000463153.1:n.309+1939T=
NM_016006.4:c.*1968T= NP_057090.2:n.*1968T=
XM_011533779.1:c.*1968T= XP_011532081.1:n.*1968T=
XM_011533780.1:c.*1994T= XP_011532082.1:n.*1994T=
XR_940447.1:n.2963T=
NM_001355186.1:c.*29+1939T= NP_001342115.1:n.*29+1939T=
NM_001365649.1:c.*1968T= NP_001352578.1:n.*1968T=
NM_001365650.1:c.*1994T= NP_001352579.1:n.*1994T=
NM_016006.5:c.*1968T= NP_057090.2:n.*1968T=
NR_158560.1:n.3029T=
NM_001355186.2:c.*29+1939T= NP_001342115.1:n.*29+1939T=
NM_016006.6:c.*1968T= MANE Select NP_057090.2:n.*1968T=