Canonical Allele Identifier: CA352344861

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2991346
• ClinVar RCV Id: RCV003850009
• dbSNP Id: rs2084511795
• MyVariant Identifiers: chr3:g.43740853T>A (hg19) ; chr3:g.43699361T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699361T>A , CM000665.2:g.43699361T>A	GRCh38
NC_000003.11:g.43740853T>A , CM000665.1:g.43740853T>A	GRCh37
NC_000003.10:g.43715857T>A	NCBI36
NG_007090.3:g.13479T>A
NG_007090.5:g.13492T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133T>A	ENSP00000013894.2:p.Ter45Lys
ENST00000454293.2:c.10T>A	ENSP00000412014.2:p.Cys4Ser
ENST00000458276.7:c.133T>A	ENSP00000390849.3:p.Cys45Ser
ENST00000642351.1:c.10T>A	ENSP00000494478.1:p.Cys4Ser
ENST00000643140.1:c.133T>A	ENSP00000495588.1:p.Trp45Arg
ENST00000643477.1:c.133T>A	ENSP00000496220.1:p.Tyr45Asn
ENST00000643500.1:c.133T>A	ENSP00000494735.1:p.Cys45Ser
ENST00000643520.1:n.181T>A
ENST00000644371.2:c.133T>A MANE Select	ENSP00000495778.1:p.Cys45Ser
ENST00000646378.1:c.*183T>A	ENSP00000495826.1:n.*183T>A
ENST00000646799.1:c.133T>A	ENSP00000494829.1:p.Trp45Arg
ENST00000649763.1:c.133T>A	ENSP00000497701.1:p.Cys45Ser
ENST00000013894.2:c.133T>A	ENSP00000013894.2:p.Ter45Lys
ENST00000454293.1:c.10T>A	ENSP00000412014.1:p.Cys4Ser
ENST00000456453.5:c.10T>A	ENSP00000391582.1:p.Cys4Ser
ENST00000458276.6:c.133T>A	ENSP00000390849.2:p.Cys45Ser
ENST00000486764.1:n.234T>A
NM_016006.4:c.133T>A	NP_057090.2:p.Cys45Ser
XM_011533779.1:c.10T>A	XP_011532081.1:p.Cys4Ser
XM_011533780.1:c.133T>A	XP_011532082.1:p.Cys45Ser
XR_940447.1:n.190T>A
NM_001355186.1:c.133T>A	NP_001342115.1:p.Cys45Ser
NM_001365649.1:c.10T>A	NP_001352578.1:p.Cys4Ser
NM_001365650.1:c.133T>A	NP_001352579.1:p.Cys45Ser
NM_016006.5:c.133T>A	NP_057090.2:p.Cys45Ser
NR_158560.1:n.256T>A
NM_001355186.2:c.133T>A	NP_001342115.1:p.Cys45Ser
NM_016006.6:c.133T>A MANE Select	NP_057090.2:p.Cys45Ser