Canonical Allele Identifier: CA2169215361
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891835503

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796432A>G , CM000677.2:g.34796432A>G GRCh38
NC_000015.9:g.35088633A>G , CM000677.1:g.35088633A>G GRCh37
NC_000015.8:g.32875925A>G NCBI36
NG_007553.1:g.4295T>C , LRG_388:g.4295T>C

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-14064A>G