Canonical Allele Identifier: CA842588232
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1260036044
gnomAD v3: 7-7968255-C-G
gnomAD v4: 7-7968255-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968255C>G , CM000669.2:g.7968255C>G GRCh38
NC_000007.13:g.8007886C>G , CM000669.1:g.8007886C>G GRCh37
NC_000007.12:g.7974411C>G NCBI36
NG_032073.1:g.4513C>G

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+289G>C