Canonical Allele Identifier: CA1879977825
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813893C= , CM000671.2:g.127813893C= GRCh38
NC_000009.11:g.130576172C= , CM000671.1:g.130576172C= GRCh37
NC_000009.10:g.129615993C= NCBI36
NG_009551.1:g.45876G= , LRG_589:g.45876G=
NG_023245.1:g.16019C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.*289C= MANE Select ENSP00000362344.2:n.*289C=
ENST00000373225.7:c.*289C= ENSP00000362322.3:n.*289C=
ENST00000373247.6:c.*289C= ENSP00000362344.2:n.*289C=
ENST00000393706.6:c.*289C= ENSP00000377309.2:n.*289C=
ENST00000460181.5:n.2041C=
ENST00000467826.5:n.710-315C=
ENST00000630236.2:c.*777C= ENSP00000486766.1:n.*777C=
NM_001018078.2:c.*289C= NP_001018088.1:n.*289C=
NM_001288803.1:c.*289C= NP_001275732.1:n.*289C=
NM_004957.5:c.*289C= NP_004948.4:n.*289C=
NR_110170.1:n.2101C=
XM_005251864.2:c.1484-315C= XP_005251921.1:n.1484-315C=
XM_011518437.1:c.*289C= XP_011516739.1:n.*289C=
XM_011518438.1:c.*289C= XP_011516740.1:n.*289C=
XM_011518439.1:c.*289C= XP_011516741.1:n.*289C=
XR_242581.2:n.1950C=
XR_242582.2:n.1381-315C=
XM_005251864.4:c.1484-315C= XP_005251921.1:n.1484-315C=
XM_011518439.2:c.*289C= XP_011516741.1:n.*289C=
XM_017014565.2:c.1334-315C= XP_016870054.1:n.1334-315C=
XM_017014566.1:c.*289C= XP_016870055.1:n.*289C=
XR_242581.4:n.1948C=
XR_242582.4:n.1379-315C=
NM_004957.6:c.*289C= MANE Select NP_004948.4:n.*289C=