Canonical Allele Identifier: CA268666537
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs576017800
gnomAD v3: 15-34796530-T-C
gnomAD v4: 15-34796530-T-C
MyVariant Identifiers: chr15:g.35088731T>C (hg19) chr15:g.34796530T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796530T>C , CM000677.2:g.34796530T>C GRCh38
NC_000015.9:g.35088731T>C , CM000677.1:g.35088731T>C GRCh37
NC_000015.8:g.32876023T>C NCBI36
NG_007553.1:g.4197A>G , LRG_388:g.4197A>G

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13966T>C
Search 100 bp 5'
Search 100 bp 3'