Canonical Allele Identifier: CA1879977107
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813415A= , CM000671.2:g.127813415A= GRCh38
NC_000009.11:g.130575694A= , CM000671.1:g.130575694A= GRCh37
NC_000009.10:g.129615515A= NCBI36
NG_009551.1:g.46354T= , LRG_589:g.46354T=
NG_023245.1:g.15541A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1575A= MANE Select ENSP00000362344.2:p.Gln525=
ENST00000373225.7:c.1425A= ENSP00000362322.3:p.Gln475=
ENST00000373228.5:c.*232A= ENSP00000362325.1:n.*232A=
ENST00000373247.6:c.1575A= ENSP00000362344.2:p.Gln525=
ENST00000393706.6:c.1497A= ENSP00000377309.2:p.Gln499=
ENST00000460181.5:n.1563A=
ENST00000467826.5:n.709+92A=
ENST00000475270.1:n.401A=
ENST00000630236.2:c.*299A= ENSP00000486766.1:n.*299A=
NM_001018078.2:c.1425A= NP_001018088.1:p.Gln475=
NM_001288803.1:c.1497A= NP_001275732.1:p.Gln499=
NM_004957.5:c.1575A= NP_004948.4:p.Gln525=
NR_110170.1:n.1623A=
XM_005251864.2:c.1483+92A= XP_005251921.1:n.1483+92A=
XM_011518437.1:c.1425A= XP_011516739.1:p.Gln475=
XM_011518438.1:c.1425A= XP_011516740.1:p.Gln475=
XM_011518439.1:c.732A= XP_011516741.1:p.Gln244=
XR_242581.2:n.1472A=
XR_242582.2:n.1380+92A=
XM_005251864.4:c.1483+92A= XP_005251921.1:n.1483+92A=
XM_011518439.2:c.732A= XP_011516741.1:p.Gln244=
XM_017014565.2:c.1333+92A= XP_016870054.1:n.1333+92A=
XM_017014566.1:c.732A= XP_016870055.1:p.Gln244=
XR_242581.4:n.1470A=
XR_242582.4:n.1378+92A=
NM_004957.6:c.1575A= MANE Select NP_004948.4:p.Gln525=