Canonical Allele Identifier: CA48266040
Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs921608918
gnomAD v2: 2-52163006-C-T
gnomAD v3: 2-51935868-C-T
gnomAD v4: 2-51935868-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51935868C>T , CM000664.2:g.51935868C>T GRCh38
NC_000002.11:g.52163006C>T , CM000664.1:g.52163006C>T GRCh37
NC_000002.10:g.52016510C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245003.1:n.879+74380C>T
NR_135237.1:n.879+74380C>T