Canonical Allele Identifier: CA2341263

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2071193
• ClinVar RCV Id: RCV002975390
• dbSNP Id: rs527728901
• ExAC: 3:43740786 T / C
• gnomAD v2: 3-43740786-T-C
• gnomAD v3: 3-43699294-T-C
• gnomAD v4: 3-43699294-T-C
• MyVariant Identifiers: chr3:g.43740786T>C (hg19) ; chr3:g.43699294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699294T>C , CM000665.2:g.43699294T>C	GRCh38
NC_000003.11:g.43740786T>C , CM000665.1:g.43740786T>C	GRCh37
NC_000003.10:g.43715790T>C	NCBI36
NG_007090.3:g.13412T>C
NG_007090.5:g.13425T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.66T>C	ENSP00000013894.2:p.Gly22=
ENST00000454293.2:c.-58T>C	ENSP00000412014.2:n.-58T>C
ENST00000458276.7:c.66T>C	ENSP00000390849.3:p.Gly22=
ENST00000642351.1:c.-58T>C	ENSP00000494478.1:n.-58T>C
ENST00000643140.1:c.66T>C	ENSP00000495588.1:p.Gly22=
ENST00000643477.1:c.66T>C	ENSP00000496220.1:p.Gly22=
ENST00000643500.1:c.66T>C	ENSP00000494735.1:p.Gly22=
ENST00000643520.1:n.114T>C
ENST00000644371.2:c.66T>C MANE Select	ENSP00000495778.1:p.Gly22=
ENST00000646378.1:c.*116T>C	ENSP00000495826.1:n.*116T>C
ENST00000646799.1:c.66T>C	ENSP00000494829.1:p.Gly22=
ENST00000649763.1:c.66T>C	ENSP00000497701.1:p.Gly22=
ENST00000013894.2:c.66T>C	ENSP00000013894.2:p.Gly22=
ENST00000454293.1:c.-58T>C	ENSP00000412014.1:n.-58T>C
ENST00000456453.5:c.-58T>C	ENSP00000391582.1:n.-58T>C
ENST00000458276.6:c.66T>C	ENSP00000390849.2:p.Gly22=
ENST00000486764.1:n.167T>C
NM_016006.4:c.66T>C	NP_057090.2:p.Gly22=
XM_011533779.1:c.-58T>C	XP_011532081.1:n.-58T>C
XM_011533780.1:c.66T>C	XP_011532082.1:p.Gly22=
XR_940447.1:n.123T>C
NM_001355186.1:c.66T>C	NP_001342115.1:p.Gly22=
NM_001365649.1:c.-58T>C	NP_001352578.1:n.-58T>C
NM_001365650.1:c.66T>C	NP_001352579.1:p.Gly22=
NM_016006.5:c.66T>C	NP_057090.2:p.Gly22=
NR_158560.1:n.189T>C
NM_001355186.2:c.66T>C	NP_001342115.1:p.Gly22=
NM_016006.6:c.66T>C MANE Select	NP_057090.2:p.Gly22=