Canonical Allele Identifier: CA352344763

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2464461
• ClinVar RCV Id: RCV003201943
• dbSNP Id: rs1391492123
• gnomAD v2: 3-43740809-C-T
• gnomAD v4: 3-43699317-C-T
• MyVariant Identifiers: chr3:g.43740809C>T (hg19) ; chr3:g.43699317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699317C>T , CM000665.2:g.43699317C>T	GRCh38
NC_000003.11:g.43740809C>T , CM000665.1:g.43740809C>T	GRCh37
NC_000003.10:g.43715813C>T	NCBI36
NG_007090.3:g.13435C>T
NG_007090.5:g.13448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.89C>T	ENSP00000013894.2:p.Thr30Met
ENST00000454293.2:c.-35C>T	ENSP00000412014.2:n.-35C>T
ENST00000458276.7:c.89C>T	ENSP00000390849.3:p.Thr30Met
ENST00000642351.1:c.-35C>T	ENSP00000494478.1:n.-35C>T
ENST00000643140.1:c.89C>T	ENSP00000495588.1:p.Thr30Met
ENST00000643477.1:c.89C>T	ENSP00000496220.1:p.Thr30Met
ENST00000643500.1:c.89C>T	ENSP00000494735.1:p.Thr30Met
ENST00000643520.1:n.137C>T
ENST00000644371.2:c.89C>T MANE Select	ENSP00000495778.1:p.Thr30Met
ENST00000646378.1:c.*139C>T	ENSP00000495826.1:n.*139C>T
ENST00000646799.1:c.89C>T	ENSP00000494829.1:p.Thr30Met
ENST00000649763.1:c.89C>T	ENSP00000497701.1:p.Thr30Met
ENST00000013894.2:c.89C>T	ENSP00000013894.2:p.Thr30Met
ENST00000454293.1:c.-35C>T	ENSP00000412014.1:n.-35C>T
ENST00000456453.5:c.-35C>T	ENSP00000391582.1:n.-35C>T
ENST00000458276.6:c.89C>T	ENSP00000390849.2:p.Thr30Met
ENST00000486764.1:n.190C>T
NM_016006.4:c.89C>T	NP_057090.2:p.Thr30Met
XM_011533779.1:c.-35C>T	XP_011532081.1:n.-35C>T
XM_011533780.1:c.89C>T	XP_011532082.1:p.Thr30Met
XR_940447.1:n.146C>T
NM_001355186.1:c.89C>T	NP_001342115.1:p.Thr30Met
NM_001365649.1:c.-35C>T	NP_001352578.1:n.-35C>T
NM_001365650.1:c.89C>T	NP_001352579.1:p.Thr30Met
NM_016006.5:c.89C>T	NP_057090.2:p.Thr30Met
NR_158560.1:n.212C>T
NM_001355186.2:c.89C>T	NP_001342115.1:p.Thr30Met
NM_016006.6:c.89C>T MANE Select	NP_057090.2:p.Thr30Met