Canonical Allele Identifier: CA842588231
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1464746436
gnomAD v3: 7-7968247-G-A
gnomAD v4: 7-7968247-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968247G>A , CM000669.2:g.7968247G>A GRCh38
NC_000007.13:g.8007878G>A , CM000669.1:g.8007878G>A GRCh37
NC_000007.12:g.7974403G>A NCBI36
NG_032073.1:g.4505G>A

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+297C>T