ClinVar

NM_000049.4(ASPA):c.426C>T (p.Tyr142=)

Genes:

ASPA:aspartoacylase [Gene - OMIM - HGNC]
SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 3481792 (on Assembly GRCh38)
• Chr17: 3385086 (on Assembly GRCh37)

Preferred name:

NM_000049.4(ASPA):c.426C>T (p.Tyr142=)

HGVS:

• NC_000017.11:g.3481792C>T
• NG_008399.2:g.13147C>T
• NG_008399.3:g.12684C>T
• NM_000049.4:c.426C>TMANE SELECT
• NM_001128085.1:c.426C>T
• NM_001321336.2:c.-73-12394G>A
• NM_001321337.2:c.-73-12394G>A
• NP_000040.1:p.Tyr142=
• NP_001121557.1:p.Tyr142=
• NC_000017.10:g.3385086C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1380839164

NCBI 1000 Genomes Browser:

rs1380839164

Molecular consequence:

• NM_001321336.2:c.-73-12394G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321337.2:c.-73-12394G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000049.4:c.426C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128085.1:c.426C>T - synonymous variant - [Sequence Ontology: SO:0001819]