Canonical Allele Identifier: CA352344850

Gene: ABHD5

Linked Data

• MyVariant Identifiers: chr3:g.43740848T>G (hg19) ; chr3:g.43699356T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699356T>G , CM000665.2:g.43699356T>G	GRCh38
NC_000003.11:g.43740848T>G , CM000665.1:g.43740848T>G	GRCh37
NC_000003.10:g.43715852T>G	NCBI36
NG_007090.3:g.13474T>G
NG_007090.5:g.13487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.128T>G	ENSP00000013894.2:p.Leu43Ter
ENST00000454293.2:c.5T>G	ENSP00000412014.2:p.Leu2Ter
ENST00000458276.7:c.128T>G	ENSP00000390849.3:p.Leu43Ter
ENST00000642351.1:c.5T>G	ENSP00000494478.1:p.Leu2Ter
ENST00000643140.1:c.128T>G	ENSP00000495588.1:p.Leu43Ter
ENST00000643477.1:c.128T>G	ENSP00000496220.1:p.Leu43Ter
ENST00000643500.1:c.128T>G	ENSP00000494735.1:p.Leu43Ter
ENST00000643520.1:n.176T>G
ENST00000644371.2:c.128T>G MANE Select	ENSP00000495778.1:p.Leu43Ter
ENST00000646378.1:c.*178T>G	ENSP00000495826.1:n.*178T>G
ENST00000646799.1:c.128T>G	ENSP00000494829.1:p.Leu43Ter
ENST00000649763.1:c.128T>G	ENSP00000497701.1:p.Leu43Ter
ENST00000013894.2:c.128T>G	ENSP00000013894.2:p.Leu43Ter
ENST00000454293.1:c.5T>G	ENSP00000412014.1:p.Leu2Ter
ENST00000456453.5:c.5T>G	ENSP00000391582.1:p.Leu2Ter
ENST00000458276.6:c.128T>G	ENSP00000390849.2:p.Leu43Ter
ENST00000486764.1:n.229T>G
NM_016006.4:c.128T>G	NP_057090.2:p.Leu43Ter
XM_011533779.1:c.5T>G	XP_011532081.1:p.Leu2Ter
XM_011533780.1:c.128T>G	XP_011532082.1:p.Leu43Ter
XR_940447.1:n.185T>G
NM_001355186.1:c.128T>G	NP_001342115.1:p.Leu43Ter
NM_001365649.1:c.5T>G	NP_001352578.1:p.Leu2Ter
NM_001365650.1:c.128T>G	NP_001352579.1:p.Leu43Ter
NM_016006.5:c.128T>G	NP_057090.2:p.Leu43Ter
NR_158560.1:n.251T>G
NM_001355186.2:c.128T>G	NP_001342115.1:p.Leu43Ter
NM_016006.6:c.128T>G MANE Select	NP_057090.2:p.Leu43Ter