Canonical Allele Identifier: CA2341466

Gene: ABHD5

Linked Data

• dbSNP Id: rs777300743
• ExAC: 3:43759140 T / C
• gnomAD v4: 3-43717648-T-C
• MyVariant Identifiers: chr3:g.43759140T>C (hg19) ; chr3:g.43717648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717648T>C , CM000665.2:g.43717648T>C	GRCh38
NC_000003.11:g.43759140T>C , CM000665.1:g.43759140T>C	GRCh37
NC_000003.10:g.43734144T>C	NCBI36
NG_007090.3:g.31766T>C
NG_007090.5:g.31779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-118T>C
ENST00000454293.2:c.651-23T>C	ENSP00000412014.2:n.651-23T>C
ENST00000458276.7:c.774-795T>C	ENSP00000390849.3:n.774-795T>C
ENST00000642351.1:c.651-23T>C	ENSP00000494478.1:n.651-23T>C
ENST00000643140.1:c.*136-23T>C	ENSP00000495588.1:n.*136-23T>C
ENST00000643477.1:c.*235-23T>C	ENSP00000496220.1:n.*235-23T>C
ENST00000643500.1:c.662-23T>C	ENSP00000494735.1:n.662-23T>C
ENST00000643520.1:n.940-23T>C
ENST00000644371.2:c.774-23T>C MANE Select	ENSP00000495778.1:n.774-23T>C
ENST00000646378.1:c.*824-23T>C	ENSP00000495826.1:n.*824-23T>C
ENST00000646799.1:c.*248-795T>C	ENSP00000494829.1:n.*248-795T>C
ENST00000649763.1:c.774-23T>C	ENSP00000497701.1:n.774-23T>C
ENST00000413300.1:c.270-118T>C	ENSP00000392159.1:n.270-118T>C
ENST00000458276.6:c.774-23T>C	ENSP00000390849.2:n.774-23T>C
NM_016006.4:c.774-23T>C	NP_057090.2:n.774-23T>C
XM_011533779.1:c.651-23T>C	XP_011532081.1:n.651-23T>C
XM_011533780.1:c.774-795T>C	XP_011532082.1:n.774-795T>C
XR_940447.1:n.719-23T>C
NM_001355186.1:c.774-23T>C	NP_001342115.1:n.774-23T>C
NM_001365649.1:c.651-23T>C	NP_001352578.1:n.651-23T>C
NM_001365650.1:c.774-795T>C	NP_001352579.1:n.774-795T>C
NM_016006.5:c.774-23T>C	NP_057090.2:n.774-23T>C
NR_158560.1:n.785-23T>C
NM_001355186.2:c.774-23T>C	NP_001342115.1:n.774-23T>C
NM_016006.6:c.774-23T>C MANE Select	NP_057090.2:n.774-23T>C