Canonical Allele Identifier: CA1879977694
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813827C= , CM000671.2:g.127813827C= GRCh38
NC_000009.11:g.130576106C= , CM000671.1:g.130576106C= GRCh37
NC_000009.10:g.129615927C= NCBI36
NG_009551.1:g.45942G= , LRG_589:g.45942G=
NG_023245.1:g.15953C=

Transcript Alleles

HGVS Amino-acid change
ENST00000373247.7:c.*223C= MANE Select ENSP00000362344.2:n.*223C=
ENST00000373225.7:c.*223C= ENSP00000362322.3:n.*223C=
ENST00000373247.6:c.*223C= ENSP00000362344.2:n.*223C=
ENST00000393706.6:c.*223C= ENSP00000377309.2:n.*223C=
ENST00000460181.5:n.1975C=
ENST00000467826.5:n.710-381C=
ENST00000630236.2:c.*711C= ENSP00000486766.1:n.*711C=
NM_001018078.2:c.*223C= NP_001018088.1:n.*223C=
NM_001288803.1:c.*223C= NP_001275732.1:n.*223C=
NM_004957.5:c.*223C= NP_004948.4:n.*223C=
NR_110170.1:n.2035C=
XM_005251864.2:c.1484-381C= XP_005251921.1:n.1484-381C=
XM_011518437.1:c.*223C= XP_011516739.1:n.*223C=
XM_011518438.1:c.*223C= XP_011516740.1:n.*223C=
XM_011518439.1:c.*223C= XP_011516741.1:n.*223C=
XR_242581.2:n.1884C=
XR_242582.2:n.1381-381C=
XM_005251864.4:c.1484-381C= XP_005251921.1:n.1484-381C=
XM_011518439.2:c.*223C= XP_011516741.1:n.*223C=
XM_017014565.2:c.1334-381C= XP_016870054.1:n.1334-381C=
XM_017014566.1:c.*223C= XP_016870055.1:n.*223C=
XR_242581.4:n.1882C=
XR_242582.4:n.1379-381C=
NM_004957.6:c.*223C= MANE Select NP_004948.4:n.*223C=