Canonical Allele Identifier: CA712283423

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1188925993
• MyVariant Identifiers: chr15:g.35088646C>T (hg19) ; chr15:g.34796445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796445C>T , CM000677.2:g.34796445C>T	GRCh38
NC_000015.9:g.35088646C>T , CM000677.1:g.35088646C>T	GRCh37
NC_000015.8:g.32875938C>T	NCBI36
NG_007553.1:g.4282G>A , LRG_388:g.4282G>A

Transcript Alleles

HGVS	Amino-acid change
NR_120329.1:n.300-14051C>T