Canonical Allele Identifier: CA433377715

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43740847T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699355T>C , CM000665.2:g.43699355T>C	GRCh38
NC_000003.11:g.43740847T>C , CM000665.1:g.43740847T>C	GRCh37
NC_000003.10:g.43715851T>C	NCBI36
NG_007090.3:g.13473T>C
NG_007090.5:g.13486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.127T>C	ENSP00000013894.2:p.Leu43=
ENST00000454293.2:c.4T>C	ENSP00000412014.2:p.Leu2=
ENST00000458276.7:c.127T>C	ENSP00000390849.3:p.Leu43=
ENST00000642351.1:c.4T>C	ENSP00000494478.1:p.Leu2=
ENST00000643140.1:c.127T>C	ENSP00000495588.1:p.Leu43=
ENST00000643477.1:c.127T>C	ENSP00000496220.1:p.Leu43=
ENST00000643500.1:c.127T>C	ENSP00000494735.1:p.Leu43=
ENST00000643520.1:n.175T>C
ENST00000644371.2:c.127T>C MANE Select	ENSP00000495778.1:p.Leu43=
ENST00000646378.1:c.*177T>C	ENSP00000495826.1:n.*177T>C
ENST00000646799.1:c.127T>C	ENSP00000494829.1:p.Leu43=
ENST00000649763.1:c.127T>C	ENSP00000497701.1:p.Leu43=
ENST00000013894.2:c.127T>C	ENSP00000013894.2:p.Leu43=
ENST00000454293.1:c.4T>C	ENSP00000412014.1:p.Leu2=
ENST00000456453.5:c.4T>C	ENSP00000391582.1:p.Leu2=
ENST00000458276.6:c.127T>C	ENSP00000390849.2:p.Leu43=
ENST00000486764.1:n.228T>C
NM_016006.4:c.127T>C	NP_057090.2:p.Leu43=
XM_011533779.1:c.4T>C	XP_011532081.1:p.Leu2=
XM_011533780.1:c.127T>C	XP_011532082.1:p.Leu43=
XR_940447.1:n.184T>C
NM_001355186.1:c.127T>C	NP_001342115.1:p.Leu43=
NM_001365649.1:c.4T>C	NP_001352578.1:p.Leu2=
NM_001365650.1:c.127T>C	NP_001352579.1:p.Leu43=
NM_016006.5:c.127T>C	NP_057090.2:p.Leu43=
NR_158560.1:n.250T>C
NM_001355186.2:c.127T>C	NP_001342115.1:p.Leu43=
NM_016006.6:c.127T>C MANE Select	NP_057090.2:p.Leu43=