Canonical Allele Identifier: CA590597104

Gene: FPGS

Linked Data

• dbSNP Id: rs1390360590
• gnomAD v2: 9-130562595-G-A
• gnomAD v3: 9-127800316-G-A
• gnomAD v4: 9-127800316-G-A
• MyVariant Identifiers: chr9:g.130562595G>A (hg19) ; chr9:g.127800316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800316G>A , CM000671.2:g.127800316G>A	GRCh38
NC_000009.11:g.130562595G>A , CM000671.1:g.130562595G>A	GRCh37
NC_000009.10:g.129602416G>A	NCBI36
NG_023245.1:g.2442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3969G>A
ENST00000479375.6:n.132-3969G>A