Canonical Allele Identifier: CA712283429
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1323578488

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796499G>C , CM000677.2:g.34796499G>C GRCh38
NC_000015.9:g.35088700G>C , CM000677.1:g.35088700G>C GRCh37
NC_000015.8:g.32875992G>C NCBI36
NG_007553.1:g.4228C>G , LRG_388:g.4228C>G

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-13997G>C