Canonical Allele Identifier: CA352344778

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43740817T>G (hg19) ; chr3:g.43699325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699325T>G , CM000665.2:g.43699325T>G	GRCh38
NC_000003.11:g.43740817T>G , CM000665.1:g.43740817T>G	GRCh37
NC_000003.10:g.43715821T>G	NCBI36
NG_007090.3:g.13443T>G
NG_007090.5:g.13456T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.97T>G	ENSP00000013894.2:p.Ser33Ala
ENST00000454293.2:c.-27T>G	ENSP00000412014.2:n.-27T>G
ENST00000458276.7:c.97T>G	ENSP00000390849.3:p.Ser33Ala
ENST00000642351.1:c.-27T>G	ENSP00000494478.1:n.-27T>G
ENST00000643140.1:c.97T>G	ENSP00000495588.1:p.Ser33Ala
ENST00000643477.1:c.97T>G	ENSP00000496220.1:p.Ser33Ala
ENST00000643500.1:c.97T>G	ENSP00000494735.1:p.Ser33Ala
ENST00000643520.1:n.145T>G
ENST00000644371.2:c.97T>G MANE Select	ENSP00000495778.1:p.Ser33Ala
ENST00000646378.1:c.*147T>G	ENSP00000495826.1:n.*147T>G
ENST00000646799.1:c.97T>G	ENSP00000494829.1:p.Ser33Ala
ENST00000649763.1:c.97T>G	ENSP00000497701.1:p.Ser33Ala
ENST00000013894.2:c.97T>G	ENSP00000013894.2:p.Ser33Ala
ENST00000454293.1:c.-27T>G	ENSP00000412014.1:n.-27T>G
ENST00000456453.5:c.-27T>G	ENSP00000391582.1:n.-27T>G
ENST00000458276.6:c.97T>G	ENSP00000390849.2:p.Ser33Ala
ENST00000486764.1:n.198T>G
NM_016006.4:c.97T>G	NP_057090.2:p.Ser33Ala
XM_011533779.1:c.-27T>G	XP_011532081.1:n.-27T>G
XM_011533780.1:c.97T>G	XP_011532082.1:p.Ser33Ala
XR_940447.1:n.154T>G
NM_001355186.1:c.97T>G	NP_001342115.1:p.Ser33Ala
NM_001365649.1:c.-27T>G	NP_001352578.1:n.-27T>G
NM_001365650.1:c.97T>G	NP_001352579.1:p.Ser33Ala
NM_016006.5:c.97T>G	NP_057090.2:p.Ser33Ala
NR_158560.1:n.220T>G
NM_001355186.2:c.97T>G	NP_001342115.1:p.Ser33Ala
NM_016006.6:c.97T>G MANE Select	NP_057090.2:p.Ser33Ala