Canonical Allele Identifier: CA48253057
Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs551980940
gnomAD v2: 2-52072329-C-A
gnomAD v3: 2-51845191-C-A
gnomAD v4: 2-51845191-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51845191C>A , CM000664.2:g.51845191C>A GRCh38
NC_000002.11:g.52072329C>A , CM000664.1:g.52072329C>A GRCh37
NC_000002.10:g.51925833C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245003.1:n.840-16258C>A
NR_135237.1:n.840-16258C>A