Canonical Allele Identifier: CA352347437

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759182A>C (hg19) ; chr3:g.43717690A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717690A>C , CM000665.2:g.43717690A>C	GRCh38
NC_000003.11:g.43759182A>C , CM000665.1:g.43759182A>C	GRCh37
NC_000003.10:g.43734186A>C	NCBI36
NG_007090.3:g.31808A>C
NG_007090.5:g.31821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-76A>C
ENST00000454293.2:c.670A>C	ENSP00000412014.2:p.Asn224His
ENST00000458276.7:c.774-753A>C	ENSP00000390849.3:n.774-753A>C
ENST00000463153.2:c.20A>C
ENST00000642351.1:c.670A>C	ENSP00000494478.1:p.Asn224His
ENST00000643140.1:c.*155A>C	ENSP00000495588.1:n.*155A>C
ENST00000643477.1:c.*254A>C	ENSP00000496220.1:n.*254A>C
ENST00000643500.1:c.681A>C	ENSP00000494735.1:p.Arg227Ser
ENST00000643520.1:n.959A>C
ENST00000644371.2:c.793A>C MANE Select	ENSP00000495778.1:p.Asn265His
ENST00000646378.1:c.*843A>C	ENSP00000495826.1:n.*843A>C
ENST00000646799.1:c.*248-753A>C	ENSP00000494829.1:n.*248-753A>C
ENST00000649763.1:c.793A>C	ENSP00000497701.1:p.Asn265His
ENST00000413300.1:c.270-76A>C	ENSP00000392159.1:n.270-76A>C
ENST00000458276.6:c.793A>C	ENSP00000390849.2:p.Asn265His
ENST00000463153.1:n.23A>C
NM_016006.4:c.793A>C	NP_057090.2:p.Asn265His
XM_011533779.1:c.670A>C	XP_011532081.1:p.Asn224His
XM_011533780.1:c.774-753A>C	XP_011532082.1:n.774-753A>C
XR_940447.1:n.738A>C
NM_001355186.1:c.793A>C	NP_001342115.1:p.Asn265His
NM_001365649.1:c.670A>C	NP_001352578.1:p.Asn224His
NM_001365650.1:c.774-753A>C	NP_001352579.1:n.774-753A>C
NM_016006.5:c.793A>C	NP_057090.2:p.Asn265His
NR_158560.1:n.804A>C
NM_001355186.2:c.793A>C	NP_001342115.1:p.Asn265His
NM_016006.6:c.793A>C MANE Select	NP_057090.2:p.Asn265His