Canonical Allele Identifier: CA712283417
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1162579860

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796437C>T , CM000677.2:g.34796437C>T GRCh38
NC_000015.9:g.35088638C>T , CM000677.1:g.35088638C>T GRCh37
NC_000015.8:g.32875930C>T NCBI36
NG_007553.1:g.4290G>A , LRG_388:g.4290G>A

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-14059C>T