Canonical Allele Identifier: CA153849579
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs977975218
gnomAD v2: 7-8007895-C-T
gnomAD v3: 7-7968264-C-T
gnomAD v4: 7-7968264-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968264C>T , CM000669.2:g.7968264C>T GRCh38
NC_000007.13:g.8007895C>T , CM000669.1:g.8007895C>T GRCh37
NC_000007.12:g.7974420C>T NCBI36
NG_032073.1:g.4522C>T

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+280G>A