ClinVar

NM_000383.4(AIRE):c.962C>A (p.Ala321Asp)

Gene:

AIRE:autoimmune regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44291177 (on Assembly GRCh38)
• Chr21: 45711060 (on Assembly GRCh37)

Preferred name:

NM_000383.4(AIRE):c.962C>A (p.Ala321Asp)

HGVS:

• NC_000021.9:g.44291177C>A
• NG_009556.1:g.10298C>A
• NM_000383.4:c.962C>AMANE SELECT
• NP_000374.1:p.Ala321Asp
• NP_000374.1:p.Ala321Asp
• LRG_18t1:c.962C>A
• LRG_18:g.10298C>A
• LRG_18p1:p.Ala321Asp
• NC_000021.8:g.45711060C>A
• NM_000383.2:c.962C>A

This HGVS expression did not pass validation

Protein change:

A321D

Molecular consequence:

• NM_000383.4:c.962C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1