Canonical Allele Identifier: CA352347741

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759305A>C (hg19) ; chr3:g.43717813A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717813A>C , CM000665.2:g.43717813A>C	GRCh38
NC_000003.11:g.43759305A>C , CM000665.1:g.43759305A>C	GRCh37
NC_000003.10:g.43734309A>C	NCBI36
NG_007090.3:g.31931A>C
NG_007090.5:g.31944A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.315A>C
ENST00000454293.2:c.793A>C	ENSP00000412014.2:p.Thr265Pro
ENST00000458276.7:c.774-630A>C	ENSP00000390849.3:n.774-630A>C
ENST00000463153.2:c.143A>C
ENST00000642351.1:c.793A>C	ENSP00000494478.1:p.Thr265Pro
ENST00000643140.1:c.*278A>C	ENSP00000495588.1:n.*278A>C
ENST00000643477.1:c.*377A>C	ENSP00000496220.1:n.*377A>C
ENST00000643500.1:c.*117A>C	ENSP00000494735.1:n.*117A>C
ENST00000643520.1:n.1082A>C
ENST00000644371.2:c.916A>C MANE Select	ENSP00000495778.1:p.Thr306Pro
ENST00000646378.1:c.*966A>C	ENSP00000495826.1:n.*966A>C
ENST00000646799.1:c.*248-630A>C	ENSP00000494829.1:n.*248-630A>C
ENST00000649763.1:c.916A>C	ENSP00000497701.1:p.Thr306Pro
ENST00000413300.1:c.317A>C	ENSP00000392159.1:p.His106Pro
ENST00000458276.6:c.916A>C	ENSP00000390849.2:p.Thr306Pro
ENST00000463153.1:n.146A>C
NM_016006.4:c.916A>C	NP_057090.2:p.Thr306Pro
XM_011533779.1:c.793A>C	XP_011532081.1:p.Thr265Pro
XM_011533780.1:c.774-630A>C	XP_011532082.1:n.774-630A>C
XR_940447.1:n.861A>C
NM_001355186.1:c.916A>C	NP_001342115.1:p.Thr306Pro
NM_001365649.1:c.793A>C	NP_001352578.1:p.Thr265Pro
NM_001365650.1:c.774-630A>C	NP_001352579.1:n.774-630A>C
NM_016006.5:c.916A>C	NP_057090.2:p.Thr306Pro
NR_158560.1:n.927A>C
NM_001355186.2:c.916A>C	NP_001342115.1:p.Thr306Pro
NM_016006.6:c.916A>C MANE Select	NP_057090.2:p.Thr306Pro