Canonical Allele Identifier: CA2169215388
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796479G= , CM000677.2:g.34796479G= GRCh38
NC_000015.9:g.35088680G= , CM000677.1:g.35088680G= GRCh37
NC_000015.8:g.32875972G= NCBI36
NG_007553.1:g.4248C= , LRG_388:g.4248C=

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-14017G=