Canonical Allele Identifier: CA1360918334
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720473T= , CM000665.2:g.43720473T= GRCh38
NC_000003.11:g.43761965T= , CM000665.1:g.43761965T= GRCh37
NC_000003.10:g.43736969T= NCBI36
NG_007090.3:g.34591T=
NG_007090.5:g.34604T=

Transcript Alleles

HGVS Amino-acid change
ENST00000454293.2:c.*29+1912T= ENSP00000412014.2:n.*29+1912T=
ENST00000463153.2:c.306+1912T=
ENST00000643477.1:c.*2452T= ENSP00000496220.1:n.*2452T=
ENST00000644371.2:c.*1941T= MANE Select ENSP00000495778.1:n.*1941T=
ENST00000649763.1:c.*29+1912T= ENSP00000497701.1:n.*29+1912T=
ENST00000463153.1:n.309+1912T=
NM_016006.4:c.*1941T= NP_057090.2:n.*1941T=
XM_011533779.1:c.*1941T= XP_011532081.1:n.*1941T=
XM_011533780.1:c.*1967T= XP_011532082.1:n.*1967T=
XR_940447.1:n.2936T=
NM_001355186.1:c.*29+1912T= NP_001342115.1:n.*29+1912T=
NM_001365649.1:c.*1941T= NP_001352578.1:n.*1941T=
NM_001365650.1:c.*1967T= NP_001352579.1:n.*1967T=
NM_016006.5:c.*1941T= NP_057090.2:n.*1941T=
NR_158560.1:n.3002T=
NM_001355186.2:c.*29+1912T= NP_001342115.1:n.*29+1912T=
NM_016006.6:c.*1941T= MANE Select NP_057090.2:n.*1941T=