Canonical Allele Identifier: CA433377679

Gene: ABHD5

Linked Data

• dbSNP Id: rs1424007074
• gnomAD v2: 3-43740792-C-T
• gnomAD v3: 3-43699300-C-T
• gnomAD v4: 3-43699300-C-T
• MyVariant Identifiers: chr3:g.43740792C>T (hg19) ; chr3:g.43699300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699300C>T , CM000665.2:g.43699300C>T	GRCh38
NC_000003.11:g.43740792C>T , CM000665.1:g.43740792C>T	GRCh37
NC_000003.10:g.43715796C>T	NCBI36
NG_007090.3:g.13418C>T
NG_007090.5:g.13431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.72C>T	ENSP00000013894.2:p.Leu24=
ENST00000454293.2:c.-52C>T	ENSP00000412014.2:n.-52C>T
ENST00000458276.7:c.72C>T	ENSP00000390849.3:p.Leu24=
ENST00000642351.1:c.-52C>T	ENSP00000494478.1:n.-52C>T
ENST00000643140.1:c.72C>T	ENSP00000495588.1:p.Leu24=
ENST00000643477.1:c.72C>T	ENSP00000496220.1:p.Leu24=
ENST00000643500.1:c.72C>T	ENSP00000494735.1:p.Leu24=
ENST00000643520.1:n.120C>T
ENST00000644371.2:c.72C>T MANE Select	ENSP00000495778.1:p.Leu24=
ENST00000646378.1:c.*122C>T	ENSP00000495826.1:n.*122C>T
ENST00000646799.1:c.72C>T	ENSP00000494829.1:p.Leu24=
ENST00000649763.1:c.72C>T	ENSP00000497701.1:p.Leu24=
ENST00000013894.2:c.72C>T	ENSP00000013894.2:p.Leu24=
ENST00000454293.1:c.-52C>T	ENSP00000412014.1:n.-52C>T
ENST00000456453.5:c.-52C>T	ENSP00000391582.1:n.-52C>T
ENST00000458276.6:c.72C>T	ENSP00000390849.2:p.Leu24=
ENST00000486764.1:n.173C>T
NM_016006.4:c.72C>T	NP_057090.2:p.Leu24=
XM_011533779.1:c.-52C>T	XP_011532081.1:n.-52C>T
XM_011533780.1:c.72C>T	XP_011532082.1:p.Leu24=
XR_940447.1:n.129C>T
NM_001355186.1:c.72C>T	NP_001342115.1:p.Leu24=
NM_001365649.1:c.-52C>T	NP_001352578.1:n.-52C>T
NM_001365650.1:c.72C>T	NP_001352579.1:p.Leu24=
NM_016006.5:c.72C>T	NP_057090.2:p.Leu24=
NR_158560.1:n.195C>T
NM_001355186.2:c.72C>T	NP_001342115.1:p.Leu24=
NM_016006.6:c.72C>T MANE Select	NP_057090.2:p.Leu24=