Canonical Allele Identifier: CA1879977064
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813397C= , CM000671.2:g.127813397C= GRCh38
NC_000009.11:g.130575676C= , CM000671.1:g.130575676C= GRCh37
NC_000009.10:g.129615497C= NCBI36
NG_009551.1:g.46372G= , LRG_589:g.46372G=
NG_023245.1:g.15523C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1557C= MANE Select ENSP00000362344.2:p.Cys519=
ENST00000373225.7:c.1407C= ENSP00000362322.3:p.Cys469=
ENST00000373228.5:c.*214C= ENSP00000362325.1:n.*214C=
ENST00000373247.6:c.1557C= ENSP00000362344.2:p.Cys519=
ENST00000393706.6:c.1479C= ENSP00000377309.2:p.Cys493=
ENST00000460181.5:n.1545C=
ENST00000467826.5:n.709+74C=
ENST00000475270.1:n.383C=
ENST00000630236.2:c.*281C= ENSP00000486766.1:n.*281C=
NM_001018078.2:c.1407C= NP_001018088.1:p.Cys469=
NM_001288803.1:c.1479C= NP_001275732.1:p.Cys493=
NM_004957.5:c.1557C= NP_004948.4:p.Cys519=
NR_110170.1:n.1605C=
XM_005251864.2:c.1483+74C= XP_005251921.1:n.1483+74C=
XM_011518437.1:c.1407C= XP_011516739.1:p.Cys469=
XM_011518438.1:c.1407C= XP_011516740.1:p.Cys469=
XM_011518439.1:c.714C= XP_011516741.1:p.Cys238=
XR_242581.2:n.1454C=
XR_242582.2:n.1380+74C=
XM_005251864.4:c.1483+74C= XP_005251921.1:n.1483+74C=
XM_011518439.2:c.714C= XP_011516741.1:p.Cys238=
XM_017014565.2:c.1333+74C= XP_016870054.1:n.1333+74C=
XM_017014566.1:c.714C= XP_016870055.1:p.Cys238=
XR_242581.4:n.1452C=
XR_242582.4:n.1378+74C=
NM_004957.6:c.1557C= MANE Select NP_004948.4:p.Cys519=