Canonical Allele Identifier: CA1879976998
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813372G= , CM000671.2:g.127813372G= GRCh38
NC_000009.11:g.130575651G= , CM000671.1:g.130575651G= GRCh37
NC_000009.10:g.129615472G= NCBI36
NG_009551.1:g.46397C= , LRG_589:g.46397C=
NG_023245.1:g.15498G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1532G= MANE Select ENSP00000362344.2:p.Ser511=
ENST00000373225.7:c.1382G= ENSP00000362322.3:p.Ser461=
ENST00000373228.5:c.*189G= ENSP00000362325.1:n.*189G=
ENST00000373247.6:c.1532G= ENSP00000362344.2:p.Ser511=
ENST00000393706.6:c.1454G= ENSP00000377309.2:p.Ser485=
ENST00000460181.5:n.1520G=
ENST00000467826.5:n.709+49G=
ENST00000475270.1:n.358G=
ENST00000630236.2:c.*256G= ENSP00000486766.1:n.*256G=
NM_001018078.2:c.1382G= NP_001018088.1:p.Ser461=
NM_001288803.1:c.1454G= NP_001275732.1:p.Ser485=
NM_004957.5:c.1532G= NP_004948.4:p.Ser511=
NR_110170.1:n.1580G=
XM_005251864.2:c.1483+49G= XP_005251921.1:n.1483+49G=
XM_011518437.1:c.1382G= XP_011516739.1:p.Ser461=
XM_011518438.1:c.1382G= XP_011516740.1:p.Ser461=
XM_011518439.1:c.689G= XP_011516741.1:p.Ser230=
XR_242581.2:n.1429G=
XR_242582.2:n.1380+49G=
XM_005251864.4:c.1483+49G= XP_005251921.1:n.1483+49G=
XM_011518439.2:c.689G= XP_011516741.1:p.Ser230=
XM_017014565.2:c.1333+49G= XP_016870054.1:n.1333+49G=
XM_017014566.1:c.689G= XP_016870055.1:p.Ser230=
XR_242581.4:n.1427G=
XR_242582.4:n.1378+49G=
NM_004957.6:c.1532G= MANE Select NP_004948.4:p.Ser511=