Canonical Allele Identifier: CA2341209
Community Standard Title: NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43691003A>C , CM000665.2:g.43691003A>C GRCh38
NC_000003.11:g.43732495A>C , CM000665.1:g.43732495A>C GRCh37
NC_000003.10:g.43707499A>C NCBI36
NG_007090.3:g.5121A>C
NG_007090.5:g.5134A>C
NG_028216.2:g.5592T>G

Transcript Alleles

HGVS Amino-acid Change
NM_016006.6:c.11A>C (ABHD5) MANE Select NP_057090.2:p.Glu4Ala
ENST00000644371.2:c.11A>C (ABHD5) MANE Select ENSP00000495778.1:p.Glu4Ala
NM_001346468.1:c.-12+514T>G (ANO10) NP_001333397.1:n.-12+514T>G
NM_001346468.2:c.-12+514T>G (ANO10) NP_001333397.1:n.-12+514T>G
NM_001346469.1:c.-12+514T>G (ANO10) NP_001333398.1:n.-12+514T>G
NM_001346469.2:c.-12+514T>G (ANO10) NP_001333398.1:n.-12+514T>G
NM_001355186.1:c.11A>C (ABHD5) NP_001342115.1:p.Glu4Ala
NM_001355186.2:c.11A>C (ABHD5) NP_001342115.1:p.Glu4Ala
NM_001365650.1:c.11A>C (ABHD5) NP_001352579.1:p.Glu4Ala
NM_016006.4:c.11A>C (ABHD5) NP_057090.2:p.Glu4Ala
NM_016006.5:c.11A>C (ABHD5) NP_057090.2:p.Glu4Ala
NR_158560.1:n.134A>C (ABHD5)
ENST00000013894.2:c.11A>C (ABHD5) ENSP00000013894.2:p.Glu4Ala
ENST00000013894.3:c.11A>C (ABHD5) ENSP00000013894.2:p.Glu4Ala
ENST00000413397.5:c.-12+514T>G (ANO10) ENSP00000399103.1:n.-12+514T>G
ENST00000439141.5:c.-106+514T>G (ANO10) ENSP00000397360.1:n.-106+514T>G
ENST00000456453.5:c.-77+293A>C (ABHD5) ENSP00000391582.1:n.-77+293A>C
ENST00000458276.6:c.11A>C (ABHD5) ENSP00000390849.2:p.Glu4Ala
ENST00000458276.7:c.11A>C (ABHD5) ENSP00000390849.3:p.Glu4Ala
ENST00000486764.1:n.112A>C (ABHD5)
ENST00000495772.1:n.56+514T>G (ANO10)
ENST00000643140.1:c.11A>C (ABHD5) ENSP00000495588.1:p.Glu4Ala
ENST00000643477.1:c.11A>C (ABHD5) ENSP00000496220.1:p.Glu4Ala
ENST00000643500.1:c.11A>C (ABHD5) ENSP00000494735.1:p.Glu4Ala
ENST00000643520.1:n.95+801A>C (ABHD5)
ENST00000646378.1:c.11A>C (ABHD5) ENSP00000495826.1:p.Glu4Ala
ENST00000646799.1:c.11A>C (ABHD5) ENSP00000494829.1:p.Glu4Ala
ENST00000649763.1:c.11A>C (ABHD5) ENSP00000497701.1:p.Glu4Ala
XM_011533780.1:c.11A>C (ABHD5) XP_011532082.1:p.Glu4Ala
XM_011533883.1:c.-12+514T>G (ANO10) XP_011532185.1:n.-12+514T>G
XM_017006717.2:c.-12+514T>G (ANO10) XP_016862206.1:n.-12+514T>G
XR_940447.1:n.68A>C (ABHD5)