ClinVar

NM_054012.4(ASS1):c.955G>A (p.Glu319Lys)

Gene:

ASS1:argininosuccinate synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 130489449 (on Assembly GRCh38)
• Chr9: 133364836 (on Assembly GRCh37)

Preferred name:

NM_054012.4(ASS1):c.955G>A (p.Glu319Lys)

HGVS:

• NC_000009.12:g.130489449G>A
• NG_011542.1:g.49743G>A
• NM_000050.4:c.955G>A
• NM_054012.4:c.955G>AMANE SELECT
• NP_000041.2:p.Glu319Lys
• NP_446464.1:p.Glu319Lys
• NC_000009.11:g.133364836G>A

This HGVS expression did not pass validation

Protein change:

E319K

Links:

dbSNP: rs1588503732

NCBI 1000 Genomes Browser:

rs1588503732

Molecular consequence:

• NM_000050.4:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_054012.4:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]