ClinVar

NM_033504.4(TMEM54):c.34G>T (p.Asp12Tyr)

Gene:

TMEM54:transmembrane protein 54 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 32898302 (on Assembly GRCh38)
• Chr1: 33363903 (on Assembly GRCh37)

Preferred name:

NM_033504.4(TMEM54):c.34G>T (p.Asp12Tyr)

HGVS:

• NC_000001.11:g.32898302C>A
• NM_001329722.2:c.34G>T
• NM_001329723.2:c.34G>T
• NM_001329724.2:c.34G>T
• NM_001329725.2:c.34G>T
• NM_033504.4:c.34G>TMANE SELECT
• NP_001316651.1:p.Asp12Tyr
• NP_001316652.1:p.Asp12Tyr
• NP_001316653.1:p.Asp12Tyr
• NP_001316654.1:p.Asp12Tyr
• NP_277039.1:p.Asp12Tyr
• NC_000001.10:g.33363903C>A
• NM_033504.2:c.34G>T

This HGVS expression did not pass validation

Protein change:

D12Y

Molecular consequence:

• NM_001329722.2:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329723.2:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329724.2:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329725.2:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033504.4:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]