Canonical Allele Identifier: CA2169215389
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891836159

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796479G>A , CM000677.2:g.34796479G>A GRCh38
NC_000015.9:g.35088680G>A , CM000677.1:g.35088680G>A GRCh37
NC_000015.8:g.32875972G>A NCBI36
NG_007553.1:g.4248C>T , LRG_388:g.4248C>T

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-14017G>A