Canonical Allele Identifier: CA12680183

Gene: GLCCI1-DT

Linked Data

• dbSNP Id: rs37973
• gnomAD v2: 7-8007876-G-A
• gnomAD v3: 7-7968245-G-A
• gnomAD v4: 7-7968245-G-A
• MyVariant Identifiers: chr7:g.8007876G>A (hg19) ; chr7:g.7968245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7968245G>A , CM000669.2:g.7968245G>A	GRCh38
NC_000007.13:g.8007876G>A , CM000669.1:g.8007876G>A	GRCh37
NC_000007.12:g.7974401G>A	NCBI36
NG_032073.1:g.4503G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_110018.1:n.209+299C>T