ClinVar

NM_021996.6(GBGT1):c.416G>A (p.Gly139Glu)

Gene:

GBGT1:globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

• Chr9: 133154205 (on Assembly GRCh38)
• Chr9: 136029592 (on Assembly GRCh37)

Preferred name:

NM_021996.6(GBGT1):c.416G>A (p.Gly139Glu)

HGVS:

• NC_000009.12:g.133154205C>T
• NG_033868.1:g.14741G>A
• NM_001282629.2:c.397G>A
• NM_001282632.2:c.365G>A
• NM_001288572.2:c.275G>A
• NM_001288573.2:c.8G>A
• NM_021996.6:c.416G>AMANE SELECT
• NP_001269558.1:p.Gly133Ser
• NP_001269561.1:p.Gly122Glu
• NP_001275501.1:p.Gly92Glu
• NP_001275502.1:p.Gly3Glu
• NP_068836.2:p.Gly139Glu
• LRG_826t1:c.416G>A
• LRG_826:g.14741G>A
• LRG_826p1:p.Gly139Glu
• NC_000009.11:g.136029592C>T
• NM_021996.4:c.416G>A

This HGVS expression did not pass validation

Protein change:

G122E

Molecular consequence:

• NM_001282629.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282632.2:c.365G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288572.2:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288573.2:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021996.6:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]