Canonical Allele Identifier: CA2803722810
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796486G>T , CM000677.2:g.34796486G>T GRCh38
NC_000015.9:g.35088687G>T , CM000677.1:g.35088687G>T GRCh37
NC_000015.8:g.32875979G>T NCBI36
NG_007553.1:g.4241C>A , LRG_388:g.4241C>A

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-14010G>T