Canonical Allele Identifier: CA352343661

Gene: ABHD5 ANO10

Linked Data

• gnomAD v4: 3-43691018-A-C
• MyVariant Identifiers: chr3:g.43732510A>C (hg19) ; chr3:g.43691018A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43691018A>C , CM000665.2:g.43691018A>C	GRCh38
NC_000003.11:g.43732510A>C , CM000665.1:g.43732510A>C	GRCh37
NC_000003.10:g.43707514A>C	NCBI36
NG_007090.3:g.5136A>C
NG_007090.5:g.5149A>C
NG_028216.2:g.5577T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.26A>C (ABHD5)	ENSP00000013894.2:p.Asp9Ala
ENST00000458276.7:c.26A>C (ABHD5)	ENSP00000390849.3:p.Asp9Ala
ENST00000643140.1:c.26A>C (ABHD5)	ENSP00000495588.1:p.Asp9Ala
ENST00000643477.1:c.26A>C (ABHD5)	ENSP00000496220.1:p.Asp9Ala
ENST00000643500.1:c.26A>C (ABHD5)	ENSP00000494735.1:p.Asp9Ala
ENST00000643520.1:n.95+816A>C (ABHD5)
ENST00000644371.2:c.26A>C (ABHD5) MANE Select	ENSP00000495778.1:p.Asp9Ala
ENST00000646378.1:c.26A>C (ABHD5)	ENSP00000495826.1:p.Asp9Ala
ENST00000646799.1:c.26A>C (ABHD5)	ENSP00000494829.1:p.Asp9Ala
ENST00000649763.1:c.26A>C (ABHD5)	ENSP00000497701.1:p.Asp9Ala
ENST00000013894.2:c.26A>C (ABHD5)	ENSP00000013894.2:p.Asp9Ala
ENST00000413397.5:c.-12+499T>G (ANO10)	ENSP00000399103.1:n.-12+499T>G
ENST00000439141.5:c.-106+499T>G (ANO10)	ENSP00000397360.1:n.-106+499T>G
ENST00000456453.5:c.-77+308A>C (ABHD5)	ENSP00000391582.1:n.-77+308A>C
ENST00000458276.6:c.26A>C (ABHD5)	ENSP00000390849.2:p.Asp9Ala
ENST00000486764.1:n.127A>C (ABHD5)
ENST00000495772.1:n.56+499T>G (ANO10)
NM_016006.4:c.26A>C (ABHD5)	NP_057090.2:p.Asp9Ala
XM_011533780.1:c.26A>C (ABHD5)	XP_011532082.1:p.Asp9Ala
XM_011533883.1:c.-12+499T>G (ANO10)	XP_011532185.1:n.-12+499T>G
XR_940447.1:n.83A>C (ABHD5)
NM_001346468.1:c.-12+499T>G (ANO10)	NP_001333397.1:n.-12+499T>G
NM_001346469.1:c.-12+499T>G (ANO10)	NP_001333398.1:n.-12+499T>G
NM_001355186.1:c.26A>C (ABHD5)	NP_001342115.1:p.Asp9Ala
NM_001365650.1:c.26A>C (ABHD5)	NP_001352579.1:p.Asp9Ala
NM_016006.5:c.26A>C (ABHD5)	NP_057090.2:p.Asp9Ala
NR_158560.1:n.149A>C (ABHD5)
XM_017006717.2:c.-12+499T>G (ANO10)	XP_016862206.1:n.-12+499T>G
NM_001355186.2:c.26A>C (ABHD5)	NP_001342115.1:p.Asp9Ala
NM_016006.6:c.26A>C (ABHD5) MANE Select	NP_057090.2:p.Asp9Ala
NM_001346468.2:c.-12+499T>G (ANO10)	NP_001333397.1:n.-12+499T>G
NM_001346469.2:c.-12+499T>G (ANO10)	NP_001333398.1:n.-12+499T>G