Canonical Allele Identifier: CA153849593
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs766334012
gnomAD v2: 7-8008016-C-A
gnomAD v3: 7-7968385-C-A
gnomAD v4: 7-7968385-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968385C>A , CM000669.2:g.7968385C>A GRCh38
NC_000007.13:g.8008016C>A , CM000669.1:g.8008016C>A GRCh37
NC_000007.12:g.7974541C>A NCBI36
NG_032073.1:g.4643C>A

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+159G>T