Canonical Allele Identifier: CA15843537
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs670957

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34797231G>A , CM000677.2:g.34797231G>A GRCh38
NC_000015.9:g.35089432G>A , CM000677.1:g.35089432G>A GRCh37
NC_000015.8:g.32876724G>A NCBI36
NG_007553.1:g.3496C>T , LRG_388:g.3496C>T

Transcript Alleles

HGVS Amino-acid change
NR_120329.1:n.300-13265G>A