Canonical Allele Identifier: CA433379403

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43759202A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717710A>C , CM000665.2:g.43717710A>C	GRCh38
NC_000003.11:g.43759202A>C , CM000665.1:g.43759202A>C	GRCh37
NC_000003.10:g.43734206A>C	NCBI36
NG_007090.3:g.31828A>C
NG_007090.5:g.31841A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.268-56A>C
ENST00000454293.2:c.690A>C	ENSP00000412014.2:p.Gly230=
ENST00000458276.7:c.774-733A>C	ENSP00000390849.3:n.774-733A>C
ENST00000463153.2:c.40A>C
ENST00000642351.1:c.690A>C	ENSP00000494478.1:p.Gly230=
ENST00000643140.1:c.*175A>C	ENSP00000495588.1:n.*175A>C
ENST00000643477.1:c.*274A>C	ENSP00000496220.1:n.*274A>C
ENST00000643500.1:c.*14A>C	ENSP00000494735.1:n.*14A>C
ENST00000643520.1:n.979A>C
ENST00000644371.2:c.813A>C MANE Select	ENSP00000495778.1:p.Gly271=
ENST00000646378.1:c.*863A>C	ENSP00000495826.1:n.*863A>C
ENST00000646799.1:c.*248-733A>C	ENSP00000494829.1:n.*248-733A>C
ENST00000649763.1:c.813A>C	ENSP00000497701.1:p.Gly271=
ENST00000413300.1:c.270-56A>C	ENSP00000392159.1:n.270-56A>C
ENST00000458276.6:c.813A>C	ENSP00000390849.2:p.Gly271=
ENST00000463153.1:n.43A>C
NM_016006.4:c.813A>C	NP_057090.2:p.Gly271=
XM_011533779.1:c.690A>C	XP_011532081.1:p.Gly230=
XM_011533780.1:c.774-733A>C	XP_011532082.1:n.774-733A>C
XR_940447.1:n.758A>C
NM_001355186.1:c.813A>C	NP_001342115.1:p.Gly271=
NM_001365649.1:c.690A>C	NP_001352578.1:p.Gly230=
NM_001365650.1:c.774-733A>C	NP_001352579.1:n.774-733A>C
NM_016006.5:c.813A>C	NP_057090.2:p.Gly271=
NR_158560.1:n.824A>C
NM_001355186.2:c.813A>C	NP_001342115.1:p.Gly271=
NM_016006.6:c.813A>C MANE Select	NP_057090.2:p.Gly271=