Canonical Allele Identifier: CA1879977032
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813382C= , CM000671.2:g.127813382C= GRCh38
NC_000009.11:g.130575661C= , CM000671.1:g.130575661C= GRCh37
NC_000009.10:g.129615482C= NCBI36
NG_009551.1:g.46387G= , LRG_589:g.46387G=
NG_023245.1:g.15508C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1542C= MANE Select ENSP00000362344.2:p.Ser514=
ENST00000373225.7:c.1392C= ENSP00000362322.3:p.Ser464=
ENST00000373228.5:c.*199C= ENSP00000362325.1:n.*199C=
ENST00000373247.6:c.1542C= ENSP00000362344.2:p.Ser514=
ENST00000393706.6:c.1464C= ENSP00000377309.2:p.Ser488=
ENST00000460181.5:n.1530C=
ENST00000467826.5:n.709+59C=
ENST00000475270.1:n.368C=
ENST00000630236.2:c.*266C= ENSP00000486766.1:n.*266C=
NM_001018078.2:c.1392C= NP_001018088.1:p.Ser464=
NM_001288803.1:c.1464C= NP_001275732.1:p.Ser488=
NM_004957.5:c.1542C= NP_004948.4:p.Ser514=
NR_110170.1:n.1590C=
XM_005251864.2:c.1483+59C= XP_005251921.1:n.1483+59C=
XM_011518437.1:c.1392C= XP_011516739.1:p.Ser464=
XM_011518438.1:c.1392C= XP_011516740.1:p.Ser464=
XM_011518439.1:c.699C= XP_011516741.1:p.Ser233=
XR_242581.2:n.1439C=
XR_242582.2:n.1380+59C=
XM_005251864.4:c.1483+59C= XP_005251921.1:n.1483+59C=
XM_011518439.2:c.699C= XP_011516741.1:p.Ser233=
XM_017014565.2:c.1333+59C= XP_016870054.1:n.1333+59C=
XM_017014566.1:c.699C= XP_016870055.1:p.Ser233=
XR_242581.4:n.1437C=
XR_242582.4:n.1378+59C=
NM_004957.6:c.1542C= MANE Select NP_004948.4:p.Ser514=