Canonical Allele Identifier: CA1129265410

Gene: FPGS

Linked Data

• dbSNP Id: rs1829550913
• gnomAD v3: 9-127800378-T-C
• gnomAD v4: 9-127800378-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800378T>C , CM000671.2:g.127800378T>C	GRCh38
NC_000009.11:g.130562657T>C , CM000671.1:g.130562657T>C	GRCh37
NC_000009.10:g.129602478T>C	NCBI36
NG_023245.1:g.2504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479147.6:n.217-3907T>C
ENST00000479375.6:n.132-3907T>C