Canonical Allele Identifier: CA860217883
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1280360231

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813802G>A , CM000671.2:g.127813802G>A GRCh38
NC_000009.11:g.130576081G>A , CM000671.1:g.130576081G>A GRCh37
NC_000009.10:g.129615902G>A NCBI36
NG_009551.1:g.45967C>T , LRG_589:g.45967C>T
NG_023245.1:g.15928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373247.7:c.*198G>A MANE Select ENSP00000362344.2:n.*198G>A
ENST00000373225.7:c.*198G>A ENSP00000362322.3:n.*198G>A
ENST00000373247.6:c.*198G>A ENSP00000362344.2:n.*198G>A
ENST00000393706.6:c.*198G>A ENSP00000377309.2:n.*198G>A
ENST00000460181.5:n.1950G>A
ENST00000467826.5:n.710-406G>A
ENST00000630236.2:c.*686G>A ENSP00000486766.1:n.*686G>A
NM_001018078.2:c.*198G>A NP_001018088.1:n.*198G>A
NM_001288803.1:c.*198G>A NP_001275732.1:n.*198G>A
NM_004957.5:c.*198G>A NP_004948.4:n.*198G>A
NR_110170.1:n.2010G>A
XM_005251864.2:c.1484-406G>A XP_005251921.1:n.1484-406G>A
XM_011518437.1:c.*198G>A XP_011516739.1:n.*198G>A
XM_011518438.1:c.*198G>A XP_011516740.1:n.*198G>A
XM_011518439.1:c.*198G>A XP_011516741.1:n.*198G>A
XR_242581.2:n.1859G>A
XR_242582.2:n.1381-406G>A
XM_005251864.4:c.1484-406G>A XP_005251921.1:n.1484-406G>A
XM_011518439.2:c.*198G>A XP_011516741.1:n.*198G>A
XM_017014565.2:c.1334-406G>A XP_016870054.1:n.1334-406G>A
XM_017014566.1:c.*198G>A XP_016870055.1:n.*198G>A
XR_242581.4:n.1857G>A
XR_242582.4:n.1379-406G>A
NM_004957.6:c.*198G>A MANE Select NP_004948.4:n.*198G>A