Canonical Allele Identifier: CA352347859

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2127182
• ClinVar RCV Id: RCV003047660 ; RCV003377844
• dbSNP Id: rs1342054663
• gnomAD v2: 3-43759348-T-C
• gnomAD v4: 3-43717856-T-C
• MyVariant Identifiers: chr3:g.43759348T>C (hg19) ; chr3:g.43717856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717856T>C , CM000665.2:g.43717856T>C	GRCh38
NC_000003.11:g.43759348T>C , CM000665.1:g.43759348T>C	GRCh37
NC_000003.10:g.43734352T>C	NCBI36
NG_007090.3:g.31974T>C
NG_007090.5:g.31987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.358T>C
ENST00000454293.2:c.836T>C	ENSP00000412014.2:p.Ile279Thr
ENST00000458276.7:c.774-587T>C	ENSP00000390849.3:n.774-587T>C
ENST00000463153.2:c.186T>C
ENST00000642351.1:c.836T>C	ENSP00000494478.1:p.Ile279Thr
ENST00000643140.1:c.*321T>C	ENSP00000495588.1:n.*321T>C
ENST00000643477.1:c.*420T>C	ENSP00000496220.1:n.*420T>C
ENST00000643500.1:c.*160T>C	ENSP00000494735.1:n.*160T>C
ENST00000643520.1:n.1125T>C
ENST00000644371.2:c.959T>C MANE Select	ENSP00000495778.1:p.Ile320Thr
ENST00000646378.1:c.*1009T>C	ENSP00000495826.1:n.*1009T>C
ENST00000646799.1:c.*248-587T>C	ENSP00000494829.1:n.*248-587T>C
ENST00000649763.1:c.959T>C	ENSP00000497701.1:p.Ile320Thr
ENST00000413300.1:c.360T>C	ENSP00000392159.1:p.Asn120=
ENST00000458276.6:c.959T>C	ENSP00000390849.2:p.Ile320Thr
ENST00000463153.1:n.189T>C
NM_016006.4:c.959T>C	NP_057090.2:p.Ile320Thr
XM_011533779.1:c.836T>C	XP_011532081.1:p.Ile279Thr
XM_011533780.1:c.774-587T>C	XP_011532082.1:n.774-587T>C
XR_940447.1:n.904T>C
NM_001355186.1:c.959T>C	NP_001342115.1:p.Ile320Thr
NM_001365649.1:c.836T>C	NP_001352578.1:p.Ile279Thr
NM_001365650.1:c.774-587T>C	NP_001352579.1:n.774-587T>C
NM_016006.5:c.959T>C	NP_057090.2:p.Ile320Thr
NR_158560.1:n.970T>C
NM_001355186.2:c.959T>C	NP_001342115.1:p.Ile320Thr
NM_016006.6:c.959T>C MANE Select	NP_057090.2:p.Ile320Thr