Canonical Allele Identifier: CA352343668

Gene: ABHD5 ANO10

Linked Data

• dbSNP Id: rs1338412139
• gnomAD v2: 3-43732511-C-G
• gnomAD v4: 3-43691019-C-G
• MyVariant Identifiers: chr3:g.43732511C>G (hg19) ; chr3:g.43691019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43691019C>G , CM000665.2:g.43691019C>G	GRCh38
NC_000003.11:g.43732511C>G , CM000665.1:g.43732511C>G	GRCh37
NC_000003.10:g.43707515C>G	NCBI36
NG_007090.3:g.5137C>G
NG_007090.5:g.5150C>G
NG_028216.2:g.5576G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.27C>G (ABHD5)	ENSP00000013894.2:p.Asp9Glu
ENST00000458276.7:c.27C>G (ABHD5)	ENSP00000390849.3:p.Asp9Glu
ENST00000643140.1:c.27C>G (ABHD5)	ENSP00000495588.1:p.Asp9Glu
ENST00000643477.1:c.27C>G (ABHD5)	ENSP00000496220.1:p.Asp9Glu
ENST00000643500.1:c.27C>G (ABHD5)	ENSP00000494735.1:p.Asp9Glu
ENST00000643520.1:n.95+817C>G (ABHD5)
ENST00000644371.2:c.27C>G (ABHD5) MANE Select	ENSP00000495778.1:p.Asp9Glu
ENST00000646378.1:c.27C>G (ABHD5)	ENSP00000495826.1:p.Asp9Glu
ENST00000646799.1:c.27C>G (ABHD5)	ENSP00000494829.1:p.Asp9Glu
ENST00000649763.1:c.27C>G (ABHD5)	ENSP00000497701.1:p.Asp9Glu
ENST00000013894.2:c.27C>G (ABHD5)	ENSP00000013894.2:p.Asp9Glu
ENST00000413397.5:c.-12+498G>C (ANO10)	ENSP00000399103.1:n.-12+498G>C
ENST00000439141.5:c.-106+498G>C (ANO10)	ENSP00000397360.1:n.-106+498G>C
ENST00000456453.5:c.-77+309C>G (ABHD5)	ENSP00000391582.1:n.-77+309C>G
ENST00000458276.6:c.27C>G (ABHD5)	ENSP00000390849.2:p.Asp9Glu
ENST00000486764.1:n.128C>G (ABHD5)
ENST00000495772.1:n.56+498G>C (ANO10)
NM_016006.4:c.27C>G (ABHD5)	NP_057090.2:p.Asp9Glu
XM_011533780.1:c.27C>G (ABHD5)	XP_011532082.1:p.Asp9Glu
XM_011533883.1:c.-12+498G>C (ANO10)	XP_011532185.1:n.-12+498G>C
XR_940447.1:n.84C>G (ABHD5)
NM_001346468.1:c.-12+498G>C (ANO10)	NP_001333397.1:n.-12+498G>C
NM_001346469.1:c.-12+498G>C (ANO10)	NP_001333398.1:n.-12+498G>C
NM_001355186.1:c.27C>G (ABHD5)	NP_001342115.1:p.Asp9Glu
NM_001365650.1:c.27C>G (ABHD5)	NP_001352579.1:p.Asp9Glu
NM_016006.5:c.27C>G (ABHD5)	NP_057090.2:p.Asp9Glu
NR_158560.1:n.150C>G (ABHD5)
XM_017006717.2:c.-12+498G>C (ANO10)	XP_016862206.1:n.-12+498G>C
NM_001355186.2:c.27C>G (ABHD5)	NP_001342115.1:p.Asp9Glu
NM_016006.6:c.27C>G (ABHD5) MANE Select	NP_057090.2:p.Asp9Glu
NM_001346468.2:c.-12+498G>C (ANO10)	NP_001333397.1:n.-12+498G>C
NM_001346469.2:c.-12+498G>C (ANO10)	NP_001333398.1:n.-12+498G>C