Canonical Allele Identifier: CA352347397

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084783514
• gnomAD v4: 3-43717672-G-A
• MyVariant Identifiers: chr3:g.43759164G>A (hg19) ; chr3:g.43717672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717672G>A , CM000665.2:g.43717672G>A	GRCh38
NC_000003.11:g.43759164G>A , CM000665.1:g.43759164G>A	GRCh37
NC_000003.10:g.43734168G>A	NCBI36
NG_007090.3:g.31790G>A
NG_007090.5:g.31803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-94G>A
ENST00000454293.2:c.652G>A	ENSP00000412014.2:p.Gly218Ser
ENST00000458276.7:c.774-771G>A	ENSP00000390849.3:n.774-771G>A
ENST00000463153.2:c.2G>A
ENST00000642351.1:c.652G>A	ENSP00000494478.1:p.Gly218Ser
ENST00000643140.1:c.*137G>A	ENSP00000495588.1:n.*137G>A
ENST00000643477.1:c.*236G>A	ENSP00000496220.1:n.*236G>A
ENST00000643500.1:c.663G>A	ENSP00000494735.1:p.Val221=
ENST00000643520.1:n.941G>A
ENST00000644371.2:c.775G>A MANE Select	ENSP00000495778.1:p.Gly259Ser
ENST00000646378.1:c.*825G>A	ENSP00000495826.1:n.*825G>A
ENST00000646799.1:c.*248-771G>A	ENSP00000494829.1:n.*248-771G>A
ENST00000649763.1:c.775G>A	ENSP00000497701.1:p.Gly259Ser
ENST00000413300.1:c.270-94G>A	ENSP00000392159.1:n.270-94G>A
ENST00000458276.6:c.775G>A	ENSP00000390849.2:p.Gly259Ser
ENST00000463153.1:n.5G>A
NM_016006.4:c.775G>A	NP_057090.2:p.Gly259Ser
XM_011533779.1:c.652G>A	XP_011532081.1:p.Gly218Ser
XM_011533780.1:c.774-771G>A	XP_011532082.1:n.774-771G>A
XR_940447.1:n.720G>A
NM_001355186.1:c.775G>A	NP_001342115.1:p.Gly259Ser
NM_001365649.1:c.652G>A	NP_001352578.1:p.Gly218Ser
NM_001365650.1:c.774-771G>A	NP_001352579.1:n.774-771G>A
NM_016006.5:c.775G>A	NP_057090.2:p.Gly259Ser
NR_158560.1:n.786G>A
NM_001355186.2:c.775G>A	NP_001342115.1:p.Gly259Ser
NM_016006.6:c.775G>A MANE Select	NP_057090.2:p.Gly259Ser