ClinVar

NM_001039613.3(IAH1):c.94C>A (p.Gln32Lys)

Gene:

IAH1:isoamyl acetate hydrolyzing esterase 1 (putative) [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 9475999 (on Assembly GRCh38)
• Chr2: 9616128 (on Assembly GRCh37)

Preferred name:

NM_001039613.3(IAH1):c.94C>A (p.Gln32Lys)

HGVS:

• NC_000002.12:g.9475999C>A
• NG_094354.1:g.490C>A
• NM_001039613.3:c.94C>AMANE SELECT
• NM_001320858.2:c.19C>A
• NM_001320859.2:c.-206+1352C>A
• NM_001320860.2:c.-174+1352C>A
• NM_001320863.2:c.-214C>A
• NP_001034702.1:p.Gln32Lys
• NP_001307787.1:p.Gln7Lys
• NC_000002.11:g.9616128C>A
• NM_001039613.1:c.94C>A

This HGVS expression did not pass validation

Protein change:

Q32K

Molecular consequence:

• NM_001320863.2:c.-214C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001320859.2:c.-206+1352C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320860.2:c.-174+1352C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001039613.3:c.94C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320858.2:c.19C>A - missense variant - [Sequence Ontology: SO:0001583]