Canonical Allele Identifier: CA5252499
Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs200314440

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1496C>T MANE Select ENSP00000362344.2:p.Ser499Phe
ENST00000373225.7:c.1346C>T ENSP00000362322.3:p.Ser449Phe
ENST00000373228.5:c.*153C>T ENSP00000362325.1:n.*153C>T
ENST00000373247.6:c.1496C>T ENSP00000362344.2:p.Ser499Phe
ENST00000393706.6:c.1418C>T ENSP00000377309.2:p.Ser473Phe
ENST00000460181.5:n.1484C>T
ENST00000467826.5:n.709+13C>T
ENST00000475270.1:n.322C>T
ENST00000630236.2:c.*220C>T ENSP00000486766.1:n.*220C>T
NM_001018078.2:c.1346C>T NP_001018088.1:p.Ser449Phe
NM_001288803.1:c.1418C>T NP_001275732.1:p.Ser473Phe
NM_004957.5:c.1496C>T NP_004948.4:p.Ser499Phe
NR_110170.1:n.1544C>T
XM_005251864.2:c.1483+13C>T XP_005251921.1:n.1483+13C>T
XM_011518437.1:c.1346C>T XP_011516739.1:p.Ser449Phe
XM_011518438.1:c.1346C>T XP_011516740.1:p.Ser449Phe
XM_011518439.1:c.653C>T XP_011516741.1:p.Ser218Phe
XR_242581.2:n.1393C>T
XR_242582.2:n.1380+13C>T
XM_005251864.4:c.1483+13C>T XP_005251921.1:n.1483+13C>T
XM_011518439.2:c.653C>T XP_011516741.1:p.Ser218Phe
XM_017014565.2:c.1333+13C>T XP_016870054.1:n.1333+13C>T
XM_017014566.1:c.653C>T XP_016870055.1:p.Ser218Phe
XR_242581.4:n.1391C>T
XR_242582.4:n.1378+13C>T
NM_004957.6:c.1496C>T MANE Select NP_004948.4:p.Ser499Phe