Canonical Allele Identifier: CA2169215374
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891835717

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796440G>T , CM000677.2:g.34796440G>T GRCh38
NC_000015.9:g.35088641G>T , CM000677.1:g.35088641G>T GRCh37
NC_000015.8:g.32875933G>T NCBI36
NG_007553.1:g.4287C>A , LRG_388:g.4287C>A

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-14056G>T