Canonical Allele Identifier: CA15849202
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs525720

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796933C>T , CM000677.2:g.34796933C>T GRCh38
NC_000015.9:g.35089134C>T , CM000677.1:g.35089134C>T GRCh37
NC_000015.8:g.32876426C>T NCBI36
NG_007553.1:g.3794G>A , LRG_388:g.3794G>A

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-13563C>T