Canonical Allele Identifier: CA1879991645
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1829550181

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127800323T>C , CM000671.2:g.127800323T>C GRCh38
NC_000009.11:g.130562602T>C , CM000671.1:g.130562602T>C GRCh37
NC_000009.10:g.129602423T>C NCBI36
NG_023245.1:g.2449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000479147.6:n.217-3962T>C
ENST00000479375.6:n.132-3962T>C