Canonical Allele Identifier: CA200280550

Gene: FPGS

Linked Data

• dbSNP Id: rs1012151158
• gnomAD v3: 9-127800264-A-G
• gnomAD v4: 9-127800264-A-G
• MyVariant Identifiers: chr9:g.130562543A>G (hg19) ; chr9:g.127800264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800264A>G , CM000671.2:g.127800264A>G	GRCh38
NC_000009.11:g.130562543A>G , CM000671.1:g.130562543A>G	GRCh37
NC_000009.10:g.129602364A>G	NCBI36
NG_023245.1:g.2390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-4021A>G
ENST00000479375.6:n.132-4021A>G