Canonical Allele Identifier: CA153849584
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs770310252
gnomAD v3: 7-7968309-C-G
gnomAD v4: 7-7968309-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968309C>G , CM000669.2:g.7968309C>G GRCh38
NC_000007.13:g.8007940C>G , CM000669.1:g.8007940C>G GRCh37
NC_000007.12:g.7974465C>G NCBI36
NG_032073.1:g.4567C>G

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+235G>C