Canonical Allele Identifier: CA968572585

Gene: GJD2-DT

Linked Data

• dbSNP Id: rs1731614521
• gnomAD v3: 15-34796468-C-T
• gnomAD v4: 15-34796468-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34796468C>T , CM000677.2:g.34796468C>T	GRCh38
NC_000015.9:g.35088669C>T , CM000677.1:g.35088669C>T	GRCh37
NC_000015.8:g.32875961C>T	NCBI36
NG_007553.1:g.4259G>A , LRG_388:g.4259G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_120329.1:n.300-14028C>T