ClinVar

NM_000169.3(GLA):c.978G>A (p.Lys326=)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101398391 (on Assembly GRCh38)
• ChrX: 100653379 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.978G>A (p.Lys326=)

HGVS:

• NC_000023.11:g.101398391C>T
• NG_007119.1:g.14573G>A
• NM_000169.3:c.978G>AMANE SELECT
• NM_001199973.2:c.300+2934C>T
• NM_001199974.2:c.177+6569C>T
• NP_000160.1:p.Lys326=
• NP_000160.1:p.Lys326=
• LRG_672t1:c.978G>A
• LRG_672:g.14573G>A
• LRG_672p1:p.Lys326=
• NC_000023.10:g.100653379C>T
• NM_000169.2:c.978G>A
• NP_000160.1:p.(=)
• NR_164783.1:n.1057G>A
• c.978G>A
• p.K326K
• p.Lys326Lys

This HGVS expression did not pass validation

Links:

dbSNP: rs151195362

NCBI 1000 Genomes Browser:

rs151195362

Molecular consequence:

• NM_001199973.2:c.300+2934C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6569C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_164783.1:n.1057G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000169.3:c.978G>A - synonymous variant - [Sequence Ontology: SO:0001819]