Canonical Allele Identifier: CA12680183
Gene: GLCCI1-DT HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968245G>A , CM000669.2:g.7968245G>A GRCh38
NC_000007.13:g.8007876G>A , CM000669.1:g.8007876G>A GRCh37
NC_000007.12:g.7974401G>A NCBI36
NG_032073.1:g.4503G>A

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+299C>T