Canonical Allele Identifier: CA2169215393
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796483A= , CM000677.2:g.34796483A= GRCh38
NC_000015.9:g.35088684A= , CM000677.1:g.35088684A= GRCh37
NC_000015.8:g.32875976A= NCBI36
NG_007553.1:g.4244T= , LRG_388:g.4244T=

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-14013A=