Canonical Allele Identifier: CA712283450
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1318100614

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796557C>T , CM000677.2:g.34796557C>T GRCh38
NC_000015.9:g.35088758C>T , CM000677.1:g.35088758C>T GRCh37
NC_000015.8:g.32876050C>T NCBI36
NG_007553.1:g.4170G>A , LRG_388:g.4170G>A

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13939C>T