Canonical Allele Identifier: CA2341495

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 2806323
• ClinVar RCV Id: RCV003679683
• dbSNP Id: rs771108440
• ExAC: 3:43759301 T / C
• gnomAD v2: 3-43759301-T-C
• gnomAD v3: 3-43717809-T-C
• gnomAD v4: 3-43717809-T-C
• MyVariant Identifiers: chr3:g.43759301T>C (hg19) ; chr3:g.43717809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717809T>C , CM000665.2:g.43717809T>C	GRCh38
NC_000003.11:g.43759301T>C , CM000665.1:g.43759301T>C	GRCh37
NC_000003.10:g.43734305T>C	NCBI36
NG_007090.3:g.31927T>C
NG_007090.5:g.31940T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.311T>C
ENST00000454293.2:c.789T>C	ENSP00000412014.2:p.Ser263=
ENST00000458276.7:c.774-634T>C	ENSP00000390849.3:n.774-634T>C
ENST00000463153.2:c.139T>C
ENST00000642351.1:c.789T>C	ENSP00000494478.1:p.Ser263=
ENST00000643140.1:c.*274T>C	ENSP00000495588.1:n.*274T>C
ENST00000643477.1:c.*373T>C	ENSP00000496220.1:n.*373T>C
ENST00000643500.1:c.*113T>C	ENSP00000494735.1:n.*113T>C
ENST00000643520.1:n.1078T>C
ENST00000644371.2:c.912T>C MANE Select	ENSP00000495778.1:p.Ser304=
ENST00000646378.1:c.*962T>C	ENSP00000495826.1:n.*962T>C
ENST00000646799.1:c.*248-634T>C	ENSP00000494829.1:n.*248-634T>C
ENST00000649763.1:c.912T>C	ENSP00000497701.1:p.Ser304=
ENST00000413300.1:c.313T>C	ENSP00000392159.1:p.Trp105Arg
ENST00000458276.6:c.912T>C	ENSP00000390849.2:p.Ser304=
ENST00000463153.1:n.142T>C
NM_016006.4:c.912T>C	NP_057090.2:p.Ser304=
XM_011533779.1:c.789T>C	XP_011532081.1:p.Ser263=
XM_011533780.1:c.774-634T>C	XP_011532082.1:n.774-634T>C
XR_940447.1:n.857T>C
NM_001355186.1:c.912T>C	NP_001342115.1:p.Ser304=
NM_001365649.1:c.789T>C	NP_001352578.1:p.Ser263=
NM_001365650.1:c.774-634T>C	NP_001352579.1:n.774-634T>C
NM_016006.5:c.912T>C	NP_057090.2:p.Ser304=
NR_158560.1:n.923T>C
NM_001355186.2:c.912T>C	NP_001342115.1:p.Ser304=
NM_016006.6:c.912T>C MANE Select	NP_057090.2:p.Ser304=