Canonical Allele Identifier: CA2681786690
Gene: GLCCI1-DT HGNC NCBI

Linked Data

gnomAD v4: 7-7968154-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968154C>A , CM000669.2:g.7968154C>A GRCh38
NC_000007.13:g.8007785C>A , CM000669.1:g.8007785C>A GRCh37
NC_000007.12:g.7974310C>A NCBI36
NG_032073.1:g.4412C>A

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+390G>T