Canonical Allele Identifier: CA2169215392
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796482C= , CM000677.2:g.34796482C= GRCh38
NC_000015.9:g.35088683C= , CM000677.1:g.35088683C= GRCh37
NC_000015.8:g.32875975C= NCBI36
NG_007553.1:g.4245G= , LRG_388:g.4245G=

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-14014C=