Canonical Allele Identifier: CA1360918444
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43720732G= , CM000665.2:g.43720732G= GRCh38
NC_000003.11:g.43762224G= , CM000665.1:g.43762224G= GRCh37
NC_000003.10:g.43737228G= NCBI36
NG_007090.3:g.34850G=
NG_007090.5:g.34863G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000454293.2:c.*29+2171G= ENSP00000412014.2:n.*29+2171G=
ENST00000463153.2:c.306+2171G=
ENST00000643477.1:c.*2711G= ENSP00000496220.1:n.*2711G=
ENST00000644371.2:c.*2200G= MANE Select ENSP00000495778.1:n.*2200G=
ENST00000649763.1:c.*29+2171G= ENSP00000497701.1:n.*29+2171G=
ENST00000463153.1:n.309+2171G=
NM_016006.4:c.*2200G= NP_057090.2:n.*2200G=
XM_011533779.1:c.*2200G= XP_011532081.1:n.*2200G=
XM_011533780.1:c.*2226G= XP_011532082.1:n.*2226G=
XR_940447.1:n.3195G=
NM_001355186.1:c.*29+2171G= NP_001342115.1:n.*29+2171G=
NM_001365649.1:c.*2200G= NP_001352578.1:n.*2200G=
NM_001365650.1:c.*2226G= NP_001352579.1:n.*2226G=
NM_016006.5:c.*2200G= NP_057090.2:n.*2200G=
NR_158560.1:n.3261G=
NM_001355186.2:c.*29+2171G= NP_001342115.1:n.*29+2171G=
NM_016006.6:c.*2200G= MANE Select NP_057090.2:n.*2200G=