Canonical Allele Identifier: CA117424

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 5350
• ClinVar RCV Id: RCV000005679
• dbSNP Id: rs28939077
• MyVariant Identifiers: chr3:g.43743962A>C (hg19) ; chr3:g.43702470A>C (hg38)
• PubMed: PMID:11590543 ; PMID:15136565

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43702470A>C , CM000665.2:g.43702470A>C	GRCh38
NC_000003.11:g.43743962A>C , CM000665.1:g.43743962A>C	GRCh37
NC_000003.10:g.43718966A>C	NCBI36
NG_007090.3:g.16588A>C
NG_007090.5:g.16601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.*383A>C	ENSP00000013894.2:n.*383A>C
ENST00000454293.2:c.266A>C	ENSP00000412014.2:p.Gln89Pro
ENST00000458276.7:c.389A>C	ENSP00000390849.3:p.Gln130Pro
ENST00000642351.1:c.266A>C	ENSP00000494478.1:p.Gln89Pro
ENST00000643140.1:c.133+3109A>C	ENSP00000495588.1:n.133+3109A>C
ENST00000643477.1:c.217A>C	ENSP00000496220.1:p.Ser73Arg
ENST00000643500.1:c.389A>C	ENSP00000494735.1:p.Gln130Pro
ENST00000643520.1:n.437A>C
ENST00000644371.2:c.389A>C MANE Select	ENSP00000495778.1:p.Gln130Pro
ENST00000646378.1:c.*439A>C	ENSP00000495826.1:n.*439A>C
ENST00000646799.1:c.133+3109A>C	ENSP00000494829.1:n.133+3109A>C
ENST00000649763.1:c.389A>C	ENSP00000497701.1:p.Gln130Pro
ENST00000013894.2:c.*383A>C	ENSP00000013894.2:n.*383A>C
ENST00000456453.5:c.266A>C	ENSP00000391582.1:p.Gln89Pro
ENST00000458276.6:c.389A>C	ENSP00000390849.2:p.Gln130Pro
NM_016006.4:c.389A>C	NP_057090.2:p.Gln130Pro
XM_011533779.1:c.266A>C	XP_011532081.1:p.Gln89Pro
XM_011533780.1:c.389A>C	XP_011532082.1:p.Gln130Pro
XR_940447.1:n.446A>C
NM_001355186.1:c.389A>C	NP_001342115.1:p.Gln130Pro
NM_001365649.1:c.266A>C	NP_001352578.1:p.Gln89Pro
NM_001365650.1:c.389A>C	NP_001352579.1:p.Gln130Pro
NM_016006.5:c.389A>C	NP_057090.2:p.Gln130Pro
NR_158560.1:n.512A>C
NM_001355186.2:c.389A>C	NP_001342115.1:p.Gln130Pro
NM_016006.6:c.389A>C MANE Select	NP_057090.2:p.Gln130Pro