Canonical Allele Identifier: CA1879977419
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813600A= , CM000671.2:g.127813600A= GRCh38
NC_000009.11:g.130575879A= , CM000671.1:g.130575879A= GRCh37
NC_000009.10:g.129615700A= NCBI36
NG_009551.1:g.46169T= , LRG_589:g.46169T=
NG_023245.1:g.15726A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1760A= MANE Select ENSP00000362344.2:p.Gln587=
ENST00000373225.7:c.1610A= ENSP00000362322.3:p.Gln537=
ENST00000373247.6:c.1760A= ENSP00000362344.2:p.Gln587=
ENST00000393706.6:c.1682A= ENSP00000377309.2:p.Gln561=
ENST00000460181.5:n.1748A=
ENST00000467826.5:n.709+277A=
ENST00000630236.2:c.*484A= ENSP00000486766.1:n.*484A=
NM_001018078.2:c.1610A= NP_001018088.1:p.Gln537=
NM_001288803.1:c.1682A= NP_001275732.1:p.Gln561=
NM_004957.5:c.1760A= NP_004948.4:p.Gln587=
NR_110170.1:n.1808A=
XM_005251864.2:c.1483+277A= XP_005251921.1:n.1483+277A=
XM_011518437.1:c.1610A= XP_011516739.1:p.Gln537=
XM_011518438.1:c.1610A= XP_011516740.1:p.Gln537=
XM_011518439.1:c.917A= XP_011516741.1:p.Gln306=
XR_242581.2:n.1657A=
XR_242582.2:n.1380+277A=
XM_005251864.4:c.1483+277A= XP_005251921.1:n.1483+277A=
XM_011518439.2:c.917A= XP_011516741.1:p.Gln306=
XM_017014565.2:c.1333+277A= XP_016870054.1:n.1333+277A=
XM_017014566.1:c.917A= XP_016870055.1:p.Gln306=
XR_242581.4:n.1655A=
XR_242582.4:n.1378+277A=
NM_004957.6:c.1760A= MANE Select NP_004948.4:p.Gln587=