Canonical Allele Identifier: CA433379387

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759172A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717680A>C , CM000665.2:g.43717680A>C	GRCh38
NC_000003.11:g.43759172A>C , CM000665.1:g.43759172A>C	GRCh37
NC_000003.10:g.43734176A>C	NCBI36
NG_007090.3:g.31798A>C
NG_007090.5:g.31811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-86A>C
ENST00000454293.2:c.660A>C	ENSP00000412014.2:p.Thr220=
ENST00000458276.7:c.774-763A>C	ENSP00000390849.3:n.774-763A>C
ENST00000463153.2:c.10A>C
ENST00000642351.1:c.660A>C	ENSP00000494478.1:p.Thr220=
ENST00000643140.1:c.*145A>C	ENSP00000495588.1:n.*145A>C
ENST00000643477.1:c.*244A>C	ENSP00000496220.1:n.*244A>C
ENST00000643500.1:c.671A>C	ENSP00000494735.1:p.Gln224Pro
ENST00000643520.1:n.949A>C
ENST00000644371.2:c.783A>C MANE Select	ENSP00000495778.1:p.Thr261=
ENST00000646378.1:c.*833A>C	ENSP00000495826.1:n.*833A>C
ENST00000646799.1:c.*248-763A>C	ENSP00000494829.1:n.*248-763A>C
ENST00000649763.1:c.783A>C	ENSP00000497701.1:p.Thr261=
ENST00000413300.1:c.270-86A>C	ENSP00000392159.1:n.270-86A>C
ENST00000458276.6:c.783A>C	ENSP00000390849.2:p.Thr261=
ENST00000463153.1:n.13A>C
NM_016006.4:c.783A>C	NP_057090.2:p.Thr261=
XM_011533779.1:c.660A>C	XP_011532081.1:p.Thr220=
XM_011533780.1:c.774-763A>C	XP_011532082.1:n.774-763A>C
XR_940447.1:n.728A>C
NM_001355186.1:c.783A>C	NP_001342115.1:p.Thr261=
NM_001365649.1:c.660A>C	NP_001352578.1:p.Thr220=
NM_001365650.1:c.774-763A>C	NP_001352579.1:n.774-763A>C
NM_016006.5:c.783A>C	NP_057090.2:p.Thr261=
NR_158560.1:n.794A>C
NM_001355186.2:c.783A>C	NP_001342115.1:p.Thr261=
NM_016006.6:c.783A>C MANE Select	NP_057090.2:p.Thr261=