Canonical Allele Identifier: CA572797303
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs987708775
gnomAD v2: 7-8007984-C-T
gnomAD v3: 7-7968353-C-T
gnomAD v4: 7-7968353-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968353C>T , CM000669.2:g.7968353C>T GRCh38
NC_000007.13:g.8007984C>T , CM000669.1:g.8007984C>T GRCh37
NC_000007.12:g.7974509C>T NCBI36
NG_032073.1:g.4611C>T

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+191G>A