Canonical Allele Identifier: CA1129265454

Gene: FPGS

Linked Data

• dbSNP Id: rs1829552217
• gnomAD v3: 9-127800536-G-A
• gnomAD v4: 9-127800536-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800536G>A , CM000671.2:g.127800536G>A	GRCh38
NC_000009.11:g.130562815G>A , CM000671.1:g.130562815G>A	GRCh37
NC_000009.10:g.129602636G>A	NCBI36
NG_023245.1:g.2662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000479147.6:n.217-3749G>A
ENST00000479375.6:n.132-3749G>A