Canonical Allele Identifier: CA1360918426
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720696A= , CM000665.2:g.43720696A= GRCh38
NC_000003.11:g.43762188A= , CM000665.1:g.43762188A= GRCh37
NC_000003.10:g.43737192A= NCBI36
NG_007090.3:g.34814A=
NG_007090.5:g.34827A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000454293.2:c.*29+2135A= ENSP00000412014.2:n.*29+2135A=
ENST00000463153.2:c.306+2135A=
ENST00000643477.1:c.*2675A= ENSP00000496220.1:n.*2675A=
ENST00000644371.2:c.*2164A= MANE Select ENSP00000495778.1:n.*2164A=
ENST00000649763.1:c.*29+2135A= ENSP00000497701.1:n.*29+2135A=
ENST00000463153.1:n.309+2135A=
NM_016006.4:c.*2164A= NP_057090.2:n.*2164A=
XM_011533779.1:c.*2164A= XP_011532081.1:n.*2164A=
XM_011533780.1:c.*2190A= XP_011532082.1:n.*2190A=
XR_940447.1:n.3159A=
NM_001355186.1:c.*29+2135A= NP_001342115.1:n.*29+2135A=
NM_001365649.1:c.*2164A= NP_001352578.1:n.*2164A=
NM_001365650.1:c.*2190A= NP_001352579.1:n.*2190A=
NM_016006.5:c.*2164A= NP_057090.2:n.*2164A=
NR_158560.1:n.3225A=
NM_001355186.2:c.*29+2135A= NP_001342115.1:n.*29+2135A=
NM_016006.6:c.*2164A= MANE Select NP_057090.2:n.*2164A=