Canonical Allele Identifier: CA2169215431
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796530T= , CM000677.2:g.34796530T= GRCh38
NC_000015.9:g.35088731T= , CM000677.1:g.35088731T= GRCh37
NC_000015.8:g.32876023T= NCBI36
NG_007553.1:g.4197A= , LRG_388:g.4197A=

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13966T=