Canonical Allele Identifier: CA2169215447
Gene: GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891837453

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34796549A>T , CM000677.2:g.34796549A>T GRCh38
NC_000015.9:g.35088750A>T , CM000677.1:g.35088750A>T GRCh37
NC_000015.8:g.32876042A>T NCBI36
NG_007553.1:g.4178T>A , LRG_388:g.4178T>A

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-13947A>T