Canonical Allele Identifier: CA352347606

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717765-G-T
• MyVariant Identifiers: chr3:g.43759257G>T (hg19) ; chr3:g.43717765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717765G>T , CM000665.2:g.43717765G>T	GRCh38
NC_000003.11:g.43759257G>T , CM000665.1:g.43759257G>T	GRCh37
NC_000003.10:g.43734261G>T	NCBI36
NG_007090.3:g.31883G>T
NG_007090.5:g.31896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-1G>T
ENST00000454293.2:c.745G>T	ENSP00000412014.2:p.Val249Phe
ENST00000458276.7:c.774-678G>T	ENSP00000390849.3:n.774-678G>T
ENST00000463153.2:c.95G>T
ENST00000642351.1:c.745G>T	ENSP00000494478.1:p.Val249Phe
ENST00000643140.1:c.*230G>T	ENSP00000495588.1:n.*230G>T
ENST00000643477.1:c.*329G>T	ENSP00000496220.1:n.*329G>T
ENST00000643500.1:c.*69G>T	ENSP00000494735.1:n.*69G>T
ENST00000643520.1:n.1034G>T
ENST00000644371.2:c.868G>T MANE Select	ENSP00000495778.1:p.Val290Phe
ENST00000646378.1:c.*918G>T	ENSP00000495826.1:n.*918G>T
ENST00000646799.1:c.*248-678G>T	ENSP00000494829.1:n.*248-678G>T
ENST00000649763.1:c.868G>T	ENSP00000497701.1:p.Val290Phe
ENST00000413300.1:c.270-1G>T	ENSP00000392159.1:n.270-1G>T
ENST00000458276.6:c.868G>T	ENSP00000390849.2:p.Val290Phe
ENST00000463153.1:n.98G>T
NM_016006.4:c.868G>T	NP_057090.2:p.Val290Phe
XM_011533779.1:c.745G>T	XP_011532081.1:p.Val249Phe
XM_011533780.1:c.774-678G>T	XP_011532082.1:n.774-678G>T
XR_940447.1:n.813G>T
NM_001355186.1:c.868G>T	NP_001342115.1:p.Val290Phe
NM_001365649.1:c.745G>T	NP_001352578.1:p.Val249Phe
NM_001365650.1:c.774-678G>T	NP_001352579.1:n.774-678G>T
NM_016006.5:c.868G>T	NP_057090.2:p.Val290Phe
NR_158560.1:n.879G>T
NM_001355186.2:c.868G>T	NP_001342115.1:p.Val290Phe
NM_016006.6:c.868G>T MANE Select	NP_057090.2:p.Val290Phe