Canonical Allele Identifier: CA860207734

Gene: FPGS

Linked Data

• dbSNP Id: rs1211115347
• gnomAD v3: 9-127800450-A-G
• gnomAD v4: 9-127800450-A-G
• MyVariant Identifiers: chr9:g.130562729A>G (hg19) ; chr9:g.127800450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800450A>G , CM000671.2:g.127800450A>G	GRCh38
NC_000009.11:g.130562729A>G , CM000671.1:g.130562729A>G	GRCh37
NC_000009.10:g.129602550A>G	NCBI36
NG_023245.1:g.2576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3835A>G
ENST00000479375.6:n.132-3835A>G