Canonical Allele Identifier: CA2341479

Gene: ABHD5

Linked Data

• dbSNP Id: rs759959911
• ExAC: 3:43759225 A / G
• gnomAD v2: 3-43759225-A-G
• gnomAD v4: 3-43717733-A-G
• MyVariant Identifiers: chr3:g.43759225A>G (hg19) ; chr3:g.43717733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717733A>G , CM000665.2:g.43717733A>G	GRCh38
NC_000003.11:g.43759225A>G , CM000665.1:g.43759225A>G	GRCh37
NC_000003.10:g.43734229A>G	NCBI36
NG_007090.3:g.31851A>G
NG_007090.5:g.31864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-33A>G
ENST00000454293.2:c.713A>G	ENSP00000412014.2:p.Gln238Arg
ENST00000458276.7:c.774-710A>G	ENSP00000390849.3:n.774-710A>G
ENST00000463153.2:c.63A>G
ENST00000642351.1:c.713A>G	ENSP00000494478.1:p.Gln238Arg
ENST00000643140.1:c.*198A>G	ENSP00000495588.1:n.*198A>G
ENST00000643477.1:c.*297A>G	ENSP00000496220.1:n.*297A>G
ENST00000643500.1:c.*37A>G	ENSP00000494735.1:n.*37A>G
ENST00000643520.1:n.1002A>G
ENST00000644371.2:c.836A>G MANE Select	ENSP00000495778.1:p.Gln279Arg
ENST00000646378.1:c.*886A>G	ENSP00000495826.1:n.*886A>G
ENST00000646799.1:c.*248-710A>G	ENSP00000494829.1:n.*248-710A>G
ENST00000649763.1:c.836A>G	ENSP00000497701.1:p.Gln279Arg
ENST00000413300.1:c.270-33A>G	ENSP00000392159.1:n.270-33A>G
ENST00000458276.6:c.836A>G	ENSP00000390849.2:p.Gln279Arg
ENST00000463153.1:n.66A>G
NM_016006.4:c.836A>G	NP_057090.2:p.Gln279Arg
XM_011533779.1:c.713A>G	XP_011532081.1:p.Gln238Arg
XM_011533780.1:c.774-710A>G	XP_011532082.1:n.774-710A>G
XR_940447.1:n.781A>G
NM_001355186.1:c.836A>G	NP_001342115.1:p.Gln279Arg
NM_001365649.1:c.713A>G	NP_001352578.1:p.Gln238Arg
NM_001365650.1:c.774-710A>G	NP_001352579.1:n.774-710A>G
NM_016006.5:c.836A>G	NP_057090.2:p.Gln279Arg
NR_158560.1:n.847A>G
NM_001355186.2:c.836A>G	NP_001342115.1:p.Gln279Arg
NM_016006.6:c.836A>G MANE Select	NP_057090.2:p.Gln279Arg