Canonical Allele Identifier: CA712283442
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1229556848

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796535G>C , CM000677.2:g.34796535G>C GRCh38
NC_000015.9:g.35088736G>C , CM000677.1:g.35088736G>C GRCh37
NC_000015.8:g.32876028G>C NCBI36
NG_007553.1:g.4192C>G , LRG_388:g.4192C>G

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13961G>C