ClinVar

NM_000558.3(HBA1):c.283G>C (p.Asp95His)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 177116 (on Assembly GRCh38)
• Chr16: 227115 (on Assembly GRCh37)

Preferred name:

NM_000558.3(HBA1):c.283G>C (p.Asp95His)

Other names:

D94H

HGVS:

• NC_000016.10:g.177116G>C
• NG_000006.1:g.37979G>C
• NG_046166.1:g.2599G>C
• NG_059186.1:g.5466G>C
• NM_000558.5:c.283G>CMANE SELECT
• NP_000549.1:p.Asp95His
• LRG_1225t1:c.283G>C
• LRG_1225:g.5466G>C
• LRG_1225p1:p.Asp95His
• NC_000016.9:g.227115G>C
• NM_000558.3:c.283G>C

This HGVS expression did not pass validation

Protein change:

D95H; ASP94HIS

Links:

HBVAR: 153; OMIM: 141800.0143; dbSNP: rs34102339

NCBI 1000 Genomes Browser:

rs34102339

Molecular consequence:

• NM_000558.5:c.283G>C - missense variant - [Sequence Ontology: SO:0001583]