Canonical Allele Identifier: CA352347376

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43756549A>C (hg19) ; chr3:g.43715057A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43715057A>C , CM000665.2:g.43715057A>C	GRCh38
NC_000003.11:g.43756549A>C , CM000665.1:g.43756549A>C	GRCh37
NC_000003.10:g.43731553A>C	NCBI36
NG_007090.3:g.29175A>C
NG_007090.5:g.29188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.266A>C
ENST00000454293.2:c.649A>C	ENSP00000412014.2:p.Ser217Arg
ENST00000458276.7:c.772A>C	ENSP00000390849.3:p.Arg258=
ENST00000642351.1:c.649A>C	ENSP00000494478.1:p.Ser217Arg
ENST00000643140.1:c.*136-2614A>C	ENSP00000495588.1:n.*136-2614A>C
ENST00000643477.1:c.*235-2614A>C	ENSP00000496220.1:n.*235-2614A>C
ENST00000643500.1:c.662-2614A>C	ENSP00000494735.1:n.662-2614A>C
ENST00000643520.1:n.938A>C
ENST00000644371.2:c.772A>C MANE Select	ENSP00000495778.1:p.Ser258Arg
ENST00000646378.1:c.*822A>C	ENSP00000495826.1:n.*822A>C
ENST00000646799.1:c.*246A>C	ENSP00000494829.1:n.*246A>C
ENST00000649763.1:c.772A>C	ENSP00000497701.1:p.Ser258Arg
ENST00000413300.1:c.268A>C	ENSP00000392159.1:p.Ser90Arg
ENST00000458276.6:c.772A>C	ENSP00000390849.2:p.Ser258Arg
NM_016006.4:c.772A>C	NP_057090.2:p.Ser258Arg
XM_011533779.1:c.649A>C	XP_011532081.1:p.Ser217Arg
XM_011533780.1:c.772A>C	XP_011532082.1:p.Arg258=
XR_940447.1:n.719-2614A>C
NM_001355186.1:c.772A>C	NP_001342115.1:p.Ser258Arg
NM_001365649.1:c.649A>C	NP_001352578.1:p.Ser217Arg
NM_001365650.1:c.772A>C	NP_001352579.1:p.Arg258=
NM_016006.5:c.772A>C	NP_057090.2:p.Ser258Arg
NR_158560.1:n.785-2614A>C
NM_001355186.2:c.772A>C	NP_001342115.1:p.Ser258Arg
NM_016006.6:c.772A>C MANE Select	NP_057090.2:p.Ser258Arg