Canonical Allele Identifier: CA2341483

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 3131090
• ClinVar RCV Id: RCV004425470
• dbSNP Id: rs763521549
• ExAC: 3:43759240 T / A
• gnomAD v2: 3-43759240-T-A
• gnomAD v3: 3-43717748-T-A
• gnomAD v4: 3-43717748-T-A
• MyVariant Identifiers: chr3:g.43759240T>A (hg19) ; chr3:g.43717748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717748T>A , CM000665.2:g.43717748T>A	GRCh38
NC_000003.11:g.43759240T>A , CM000665.1:g.43759240T>A	GRCh37
NC_000003.10:g.43734244T>A	NCBI36
NG_007090.3:g.31866T>A
NG_007090.5:g.31879T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-18T>A
ENST00000454293.2:c.728T>A	ENSP00000412014.2:p.Met243Lys
ENST00000458276.7:c.774-695T>A	ENSP00000390849.3:n.774-695T>A
ENST00000463153.2:c.78T>A
ENST00000642351.1:c.728T>A	ENSP00000494478.1:p.Met243Lys
ENST00000643140.1:c.*213T>A	ENSP00000495588.1:n.*213T>A
ENST00000643477.1:c.*312T>A	ENSP00000496220.1:n.*312T>A
ENST00000643500.1:c.*52T>A	ENSP00000494735.1:n.*52T>A
ENST00000643520.1:n.1017T>A
ENST00000644371.2:c.851T>A MANE Select	ENSP00000495778.1:p.Met284Lys
ENST00000646378.1:c.*901T>A	ENSP00000495826.1:n.*901T>A
ENST00000646799.1:c.*248-695T>A	ENSP00000494829.1:n.*248-695T>A
ENST00000649763.1:c.851T>A	ENSP00000497701.1:p.Met284Lys
ENST00000413300.1:c.270-18T>A	ENSP00000392159.1:n.270-18T>A
ENST00000458276.6:c.851T>A	ENSP00000390849.2:p.Met284Lys
ENST00000463153.1:n.81T>A
NM_016006.4:c.851T>A	NP_057090.2:p.Met284Lys
XM_011533779.1:c.728T>A	XP_011532081.1:p.Met243Lys
XM_011533780.1:c.774-695T>A	XP_011532082.1:n.774-695T>A
XR_940447.1:n.796T>A
NM_001355186.1:c.851T>A	NP_001342115.1:p.Met284Lys
NM_001365649.1:c.728T>A	NP_001352578.1:p.Met243Lys
NM_001365650.1:c.774-695T>A	NP_001352579.1:n.774-695T>A
NM_016006.5:c.851T>A	NP_057090.2:p.Met284Lys
NR_158560.1:n.862T>A
NM_001355186.2:c.851T>A	NP_001342115.1:p.Met284Lys
NM_016006.6:c.851T>A MANE Select	NP_057090.2:p.Met284Lys