Canonical Allele Identifier: CA2169194308
Gene: GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34799485G>A , CM000677.2:g.34799485G>A GRCh38
NC_000015.9:g.35091686G>A , CM000677.1:g.35091686G>A GRCh37
NC_000015.8:g.32878978G>A NCBI36
NG_007553.1:g.1242C>T , LRG_388:g.1242C>T

Transcript Alleles

HGVS Amino-acid Change
NR_120329.1:n.300-11011G>A