Canonical Allele Identifier: CA590597102

Gene: FPGS

Linked Data

• dbSNP Id: rs1304173195
• gnomAD v2: 9-130562539-A-G
• gnomAD v3: 9-127800260-A-G
• gnomAD v4: 9-127800260-A-G
• MyVariant Identifiers: chr9:g.130562539A>G (hg19) ; chr9:g.127800260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800260A>G , CM000671.2:g.127800260A>G	GRCh38
NC_000009.11:g.130562539A>G , CM000671.1:g.130562539A>G	GRCh37
NC_000009.10:g.129602360A>G	NCBI36
NG_023245.1:g.2386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-4025A>G
ENST00000479375.6:n.132-4025A>G