Canonical Allele Identifier: CA352347717

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759297A>C (hg19) ; chr3:g.43717805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717805A>C , CM000665.2:g.43717805A>C	GRCh38
NC_000003.11:g.43759297A>C , CM000665.1:g.43759297A>C	GRCh37
NC_000003.10:g.43734301A>C	NCBI36
NG_007090.3:g.31923A>C
NG_007090.5:g.31936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.307A>C
ENST00000454293.2:c.785A>C	ENSP00000412014.2:p.Asn262Thr
ENST00000458276.7:c.774-638A>C	ENSP00000390849.3:n.774-638A>C
ENST00000463153.2:c.135A>C
ENST00000642351.1:c.785A>C	ENSP00000494478.1:p.Asn262Thr
ENST00000643140.1:c.*270A>C	ENSP00000495588.1:n.*270A>C
ENST00000643477.1:c.*369A>C	ENSP00000496220.1:n.*369A>C
ENST00000643500.1:c.*109A>C	ENSP00000494735.1:n.*109A>C
ENST00000643520.1:n.1074A>C
ENST00000644371.2:c.908A>C MANE Select	ENSP00000495778.1:p.Asn303Thr
ENST00000646378.1:c.*958A>C	ENSP00000495826.1:n.*958A>C
ENST00000646799.1:c.*248-638A>C	ENSP00000494829.1:n.*248-638A>C
ENST00000649763.1:c.908A>C	ENSP00000497701.1:p.Asn303Thr
ENST00000413300.1:c.309A>C	ENSP00000392159.1:p.Gln103His
ENST00000458276.6:c.908A>C	ENSP00000390849.2:p.Asn303Thr
ENST00000463153.1:n.138A>C
NM_016006.4:c.908A>C	NP_057090.2:p.Asn303Thr
XM_011533779.1:c.785A>C	XP_011532081.1:p.Asn262Thr
XM_011533780.1:c.774-638A>C	XP_011532082.1:n.774-638A>C
XR_940447.1:n.853A>C
NM_001355186.1:c.908A>C	NP_001342115.1:p.Asn303Thr
NM_001365649.1:c.785A>C	NP_001352578.1:p.Asn262Thr
NM_001365650.1:c.774-638A>C	NP_001352579.1:n.774-638A>C
NM_016006.5:c.908A>C	NP_057090.2:p.Asn303Thr
NR_158560.1:n.919A>C
NM_001355186.2:c.908A>C	NP_001342115.1:p.Asn303Thr
NM_016006.6:c.908A>C MANE Select	NP_057090.2:p.Asn303Thr