Canonical Allele Identifier: CA712283467
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1391918574

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796576C>T , CM000677.2:g.34796576C>T GRCh38
NC_000015.9:g.35088777C>T , CM000677.1:g.35088777C>T GRCh37
NC_000015.8:g.32876069C>T NCBI36
NG_007553.1:g.4151G>A , LRG_388:g.4151G>A

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13920C>T