Canonical Allele Identifier: CA2169215441
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796548C= , CM000677.2:g.34796548C= GRCh38
NC_000015.9:g.35088749C= , CM000677.1:g.35088749C= GRCh37
NC_000015.8:g.32876041C= NCBI36
NG_007553.1:g.4179G= , LRG_388:g.4179G=

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13948C=