ClinVar

NM_000666.3(ACY1):c.626G>A (p.Arg209His)

Genes:

ABHD14A-ACY1:ABHD14A-ACY1 readthrough [Gene - HGNC]
ACY1:aminoacylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.2

Genomic location:

• Chr3: 51987030 (on Assembly GRCh38)
• Chr3: 52021046 (on Assembly GRCh37)

Preferred name:

NM_000666.3(ACY1):c.626G>A (p.Arg209His)

HGVS:

• NC_000003.12:g.51987030G>A
• NG_012036.1:g.8484G>A
• NM_000666.3:c.626G>AMANE SELECT
• NM_001198895.2:c.626G>A
• NM_001198896.2:c.410G>A
• NM_001198897.2:c.626G>A
• NM_001198898.2:c.521G>A
• NM_001316331.2:c.896G>A
• NP_000657.1:p.Arg209His
• NP_001185824.1:p.Arg209His
• NP_001185825.1:p.Arg137His
• NP_001185826.1:p.Arg209His
• NP_001185827.1:p.Arg174His
• NP_001303260.1:p.Arg299His
• NC_000003.11:g.52021046G>A

This HGVS expression did not pass validation

Protein change:

R137H

Molecular consequence:

• NM_000666.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198895.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198896.2:c.410G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198897.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198898.2:c.521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316331.2:c.896G>A - missense variant - [Sequence Ontology: SO:0001583]