Canonical Allele Identifier: CA712283486
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1489556054

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796598A>G , CM000677.2:g.34796598A>G GRCh38
NC_000015.9:g.35088799A>G , CM000677.1:g.35088799A>G GRCh37
NC_000015.8:g.32876091A>G NCBI36
NG_007553.1:g.4129T>C , LRG_388:g.4129T>C

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13898A>G