Canonical Allele Identifier: CA153849571
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1034324122
gnomAD v2: 7-8007787-G-C
gnomAD v3: 7-7968156-G-C
gnomAD v4: 7-7968156-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968156G>C , CM000669.2:g.7968156G>C GRCh38
NC_000007.13:g.8007787G>C , CM000669.1:g.8007787G>C GRCh37
NC_000007.12:g.7974312G>C NCBI36
NG_032073.1:g.4414G>C

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+388C>G