Canonical Allele Identifier: CA1879977054
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813393G= , CM000671.2:g.127813393G= GRCh38
NC_000009.11:g.130575672G= , CM000671.1:g.130575672G= GRCh37
NC_000009.10:g.129615493G= NCBI36
NG_009551.1:g.46376C= , LRG_589:g.46376C=
NG_023245.1:g.15519G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1553G= MANE Select ENSP00000362344.2:p.Ser518=
ENST00000373225.7:c.1403G= ENSP00000362322.3:p.Ser468=
ENST00000373228.5:c.*210G= ENSP00000362325.1:n.*210G=
ENST00000373247.6:c.1553G= ENSP00000362344.2:p.Ser518=
ENST00000393706.6:c.1475G= ENSP00000377309.2:p.Ser492=
ENST00000460181.5:n.1541G=
ENST00000467826.5:n.709+70G=
ENST00000475270.1:n.379G=
ENST00000630236.2:c.*277G= ENSP00000486766.1:n.*277G=
NM_001018078.2:c.1403G= NP_001018088.1:p.Ser468=
NM_001288803.1:c.1475G= NP_001275732.1:p.Ser492=
NM_004957.5:c.1553G= NP_004948.4:p.Ser518=
NR_110170.1:n.1601G=
XM_005251864.2:c.1483+70G= XP_005251921.1:n.1483+70G=
XM_011518437.1:c.1403G= XP_011516739.1:p.Ser468=
XM_011518438.1:c.1403G= XP_011516740.1:p.Ser468=
XM_011518439.1:c.710G= XP_011516741.1:p.Ser237=
XR_242581.2:n.1450G=
XR_242582.2:n.1380+70G=
XM_005251864.4:c.1483+70G= XP_005251921.1:n.1483+70G=
XM_011518439.2:c.710G= XP_011516741.1:p.Ser237=
XM_017014565.2:c.1333+70G= XP_016870054.1:n.1333+70G=
XM_017014566.1:c.710G= XP_016870055.1:p.Ser237=
XR_242581.4:n.1448G=
XR_242582.4:n.1378+70G=
NM_004957.6:c.1553G= MANE Select NP_004948.4:p.Ser518=