Canonical Allele Identifier: CA352347669

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759280A>T (hg19) ; chr3:g.43717788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717788A>T , CM000665.2:g.43717788A>T	GRCh38
NC_000003.11:g.43759280A>T , CM000665.1:g.43759280A>T	GRCh37
NC_000003.10:g.43734284A>T	NCBI36
NG_007090.3:g.31906A>T
NG_007090.5:g.31919A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.290A>T
ENST00000454293.2:c.768A>T	ENSP00000412014.2:p.Arg256=
ENST00000458276.7:c.774-655A>T	ENSP00000390849.3:n.774-655A>T
ENST00000463153.2:c.118A>T
ENST00000642351.1:c.768A>T	ENSP00000494478.1:p.Arg256=
ENST00000643140.1:c.*253A>T	ENSP00000495588.1:n.*253A>T
ENST00000643477.1:c.*352A>T	ENSP00000496220.1:n.*352A>T
ENST00000643500.1:c.*92A>T	ENSP00000494735.1:n.*92A>T
ENST00000643520.1:n.1057A>T
ENST00000644371.2:c.891A>T MANE Select	ENSP00000495778.1:p.Arg297=
ENST00000646378.1:c.*941A>T	ENSP00000495826.1:n.*941A>T
ENST00000646799.1:c.*248-655A>T	ENSP00000494829.1:n.*248-655A>T
ENST00000649763.1:c.891A>T	ENSP00000497701.1:p.Arg297=
ENST00000413300.1:c.292A>T	ENSP00000392159.1:p.Ile98Phe
ENST00000458276.6:c.891A>T	ENSP00000390849.2:p.Arg297=
ENST00000463153.1:n.121A>T
NM_016006.4:c.891A>T	NP_057090.2:p.Arg297=
XM_011533779.1:c.768A>T	XP_011532081.1:p.Arg256=
XM_011533780.1:c.774-655A>T	XP_011532082.1:n.774-655A>T
XR_940447.1:n.836A>T
NM_001355186.1:c.891A>T	NP_001342115.1:p.Arg297=
NM_001365649.1:c.768A>T	NP_001352578.1:p.Arg256=
NM_001365650.1:c.774-655A>T	NP_001352579.1:n.774-655A>T
NM_016006.5:c.891A>T	NP_057090.2:p.Arg297=
NR_158560.1:n.902A>T
NM_001355186.2:c.891A>T	NP_001342115.1:p.Arg297=
NM_016006.6:c.891A>T MANE Select	NP_057090.2:p.Arg297=