Canonical Allele Identifier: CA433377695
Gene: ABHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.43740813T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43699321T>A , CM000665.2:g.43699321T>A GRCh38
NC_000003.11:g.43740813T>A , CM000665.1:g.43740813T>A GRCh37
NC_000003.10:g.43715817T>A NCBI36
NG_007090.3:g.13439T>A
NG_007090.5:g.13452T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000013894.3:c.93T>A ENSP00000013894.2:p.Ser31=
ENST00000454293.2:c.-31T>A ENSP00000412014.2:n.-31T>A
ENST00000458276.7:c.93T>A ENSP00000390849.3:p.Ser31=
ENST00000642351.1:c.-31T>A ENSP00000494478.1:n.-31T>A
ENST00000643140.1:c.93T>A ENSP00000495588.1:p.Ser31=
ENST00000643477.1:c.93T>A ENSP00000496220.1:p.Ser31=
ENST00000643500.1:c.93T>A ENSP00000494735.1:p.Ser31=
ENST00000643520.1:n.141T>A
ENST00000644371.2:c.93T>A MANE Select ENSP00000495778.1:p.Ser31=
ENST00000646378.1:c.*143T>A ENSP00000495826.1:n.*143T>A
ENST00000646799.1:c.93T>A ENSP00000494829.1:p.Ser31=
ENST00000649763.1:c.93T>A ENSP00000497701.1:p.Ser31=
ENST00000013894.2:c.93T>A ENSP00000013894.2:p.Ser31=
ENST00000454293.1:c.-31T>A ENSP00000412014.1:n.-31T>A
ENST00000456453.5:c.-31T>A ENSP00000391582.1:n.-31T>A
ENST00000458276.6:c.93T>A ENSP00000390849.2:p.Ser31=
ENST00000486764.1:n.194T>A
NM_016006.4:c.93T>A NP_057090.2:p.Ser31=
XM_011533779.1:c.-31T>A XP_011532081.1:n.-31T>A
XM_011533780.1:c.93T>A XP_011532082.1:p.Ser31=
XR_940447.1:n.150T>A
NM_001355186.1:c.93T>A NP_001342115.1:p.Ser31=
NM_001365649.1:c.-31T>A NP_001352578.1:n.-31T>A
NM_001365650.1:c.93T>A NP_001352579.1:p.Ser31=
NM_016006.5:c.93T>A NP_057090.2:p.Ser31=
NR_158560.1:n.216T>A
NM_001355186.2:c.93T>A NP_001342115.1:p.Ser31=
NM_016006.6:c.93T>A MANE Select NP_057090.2:p.Ser31=