Canonical Allele Identifier: CA153849572
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs768178450
gnomAD v2: 7-8007791-T-G
gnomAD v3: 7-7968160-T-G
gnomAD v4: 7-7968160-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968160T>G , CM000669.2:g.7968160T>G GRCh38
NC_000007.13:g.8007791T>G , CM000669.1:g.8007791T>G GRCh37
NC_000007.12:g.7974316T>G NCBI36
NG_032073.1:g.4418T>G

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+384A>C