Canonical Allele Identifier: CA842588248
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1219471701
gnomAD v3: 7-7968271-T-C
gnomAD v4: 7-7968271-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968271T>C , CM000669.2:g.7968271T>C GRCh38
NC_000007.13:g.8007902T>C , CM000669.1:g.8007902T>C GRCh37
NC_000007.12:g.7974427T>C NCBI36
NG_032073.1:g.4529T>C

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+273A>G