ClinVar

NM_000032.5(ALAS2):c.415+16T>A

Gene:

ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.21

Genomic location:

• ChrX: 55023741 (on Assembly GRCh38)
• ChrX: 55050174 (on Assembly GRCh37)

Preferred name:

NM_000032.5(ALAS2):c.415+16T>A

HGVS:

• NC_000023.11:g.55023741A>T
• NG_008983.1:g.12324T>A
• NG_051542.1:g.85A>T
• NM_000032.5:c.415+16T>AMANE SELECT
• NM_001037967.4:c.304+977T>A
• NM_001037968.4:c.376+977T>A
• LRG_1163t1:c.415+16T>A
• LRG_1163:g.12324T>A
• NC_000023.10:g.55050174A>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000032.5:c.415+16T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001037967.4:c.304+977T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001037968.4:c.376+977T>A - intron variant - [Sequence Ontology: SO:0001627]