Canonical Allele Identifier: CA48266045
Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs554930494
gnomAD v2: 2-52163045-G-T
gnomAD v3: 2-51935907-G-T
gnomAD v4: 2-51935907-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51935907G>T , CM000664.2:g.51935907G>T GRCh38
NC_000002.11:g.52163045G>T , CM000664.1:g.52163045G>T GRCh37
NC_000002.10:g.52016549G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245003.1:n.879+74419G>T
NR_135237.1:n.879+74419G>T