Canonical Allele Identifier: CA433379396

Gene: ABHD5

Linked Data

• dbSNP Id: rs1283826039
• gnomAD v2: 3-43759190-T-G
• gnomAD v4: 3-43717698-T-G
• MyVariant Identifiers: chr3:g.43759190T>G (hg19) ; chr3:g.43717698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717698T>G , CM000665.2:g.43717698T>G	GRCh38
NC_000003.11:g.43759190T>G , CM000665.1:g.43759190T>G	GRCh37
NC_000003.10:g.43734194T>G	NCBI36
NG_007090.3:g.31816T>G
NG_007090.5:g.31829T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-68T>G
ENST00000454293.2:c.678T>G	ENSP00000412014.2:p.Thr226=
ENST00000458276.7:c.774-745T>G	ENSP00000390849.3:n.774-745T>G
ENST00000463153.2:c.28T>G
ENST00000642351.1:c.678T>G	ENSP00000494478.1:p.Thr226=
ENST00000643140.1:c.*163T>G	ENSP00000495588.1:n.*163T>G
ENST00000643477.1:c.*262T>G	ENSP00000496220.1:n.*262T>G
ENST00000643500.1:c.*2T>G	ENSP00000494735.1:n.*2T>G
ENST00000643520.1:n.967T>G
ENST00000644371.2:c.801T>G MANE Select	ENSP00000495778.1:p.Thr267=
ENST00000646378.1:c.*851T>G	ENSP00000495826.1:n.*851T>G
ENST00000646799.1:c.*248-745T>G	ENSP00000494829.1:n.*248-745T>G
ENST00000649763.1:c.801T>G	ENSP00000497701.1:p.Thr267=
ENST00000413300.1:c.270-68T>G	ENSP00000392159.1:n.270-68T>G
ENST00000458276.6:c.801T>G	ENSP00000390849.2:p.Thr267=
ENST00000463153.1:n.31T>G
NM_016006.4:c.801T>G	NP_057090.2:p.Thr267=
XM_011533779.1:c.678T>G	XP_011532081.1:p.Thr226=
XM_011533780.1:c.774-745T>G	XP_011532082.1:n.774-745T>G
XR_940447.1:n.746T>G
NM_001355186.1:c.801T>G	NP_001342115.1:p.Thr267=
NM_001365649.1:c.678T>G	NP_001352578.1:p.Thr226=
NM_001365650.1:c.774-745T>G	NP_001352579.1:n.774-745T>G
NM_016006.5:c.801T>G	NP_057090.2:p.Thr267=
NR_158560.1:n.812T>G
NM_001355186.2:c.801T>G	NP_001342115.1:p.Thr267=
NM_016006.6:c.801T>G MANE Select	NP_057090.2:p.Thr267=