Canonical Allele Identifier: CA1879976883
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813336C= , CM000671.2:g.127813336C= GRCh38
NC_000009.11:g.130575615C= , CM000671.1:g.130575615C= GRCh37
NC_000009.10:g.129615436C= NCBI36
NG_009551.1:g.46433G= , LRG_589:g.46433G=
NG_023245.1:g.15462C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1496C= MANE Select ENSP00000362344.2:p.Ser499=
ENST00000373225.7:c.1346C= ENSP00000362322.3:p.Ser449=
ENST00000373228.5:c.*153C= ENSP00000362325.1:n.*153C=
ENST00000373247.6:c.1496C= ENSP00000362344.2:p.Ser499=
ENST00000393706.6:c.1418C= ENSP00000377309.2:p.Ser473=
ENST00000460181.5:n.1484C=
ENST00000467826.5:n.709+13C=
ENST00000475270.1:n.322C=
ENST00000630236.2:c.*220C= ENSP00000486766.1:n.*220C=
NM_001018078.2:c.1346C= NP_001018088.1:p.Ser449=
NM_001288803.1:c.1418C= NP_001275732.1:p.Ser473=
NM_004957.5:c.1496C= NP_004948.4:p.Ser499=
NR_110170.1:n.1544C=
XM_005251864.2:c.1483+13C= XP_005251921.1:n.1483+13C=
XM_011518437.1:c.1346C= XP_011516739.1:p.Ser449=
XM_011518438.1:c.1346C= XP_011516740.1:p.Ser449=
XM_011518439.1:c.653C= XP_011516741.1:p.Ser218=
XR_242581.2:n.1393C=
XR_242582.2:n.1380+13C=
XM_005251864.4:c.1483+13C= XP_005251921.1:n.1483+13C=
XM_011518439.2:c.653C= XP_011516741.1:p.Ser218=
XM_017014565.2:c.1333+13C= XP_016870054.1:n.1333+13C=
XM_017014566.1:c.653C= XP_016870055.1:p.Ser218=
XR_242581.4:n.1391C=
XR_242582.4:n.1378+13C=
NM_004957.6:c.1496C= MANE Select NP_004948.4:p.Ser499=