Canonical Allele Identifier: CA842588243
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1265368495
gnomAD v3: 7-7968269-G-A
gnomAD v4: 7-7968269-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968269G>A , CM000669.2:g.7968269G>A GRCh38
NC_000007.13:g.8007900G>A , CM000669.1:g.8007900G>A GRCh37
NC_000007.12:g.7974425G>A NCBI36
NG_032073.1:g.4527G>A

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+275C>T