Canonical Allele Identifier: CA2169215449
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796550A= , CM000677.2:g.34796550A= GRCh38
NC_000015.9:g.35088751A= , CM000677.1:g.35088751A= GRCh37
NC_000015.8:g.32876043A= NCBI36
NG_007553.1:g.4177T= , LRG_388:g.4177T=

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-13946A=