Canonical Allele Identifier: CA1129265424
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1829551579
gnomAD v3: 9-127800458-T-C
gnomAD v4: 9-127800458-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127800458T>C , CM000671.2:g.127800458T>C GRCh38
NC_000009.11:g.130562737T>C , CM000671.1:g.130562737T>C GRCh37
NC_000009.10:g.129602558T>C NCBI36
NG_023245.1:g.2584T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000479147.6:n.217-3827T>C
ENST00000479375.6:n.132-3827T>C
Search 100 bp 5'
Search 100 bp 3'