Canonical Allele Identifier: CA1879977411
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813596T= , CM000671.2:g.127813596T= GRCh38
NC_000009.11:g.130575875T= , CM000671.1:g.130575875T= GRCh37
NC_000009.10:g.129615696T= NCBI36
NG_009551.1:g.46173A= , LRG_589:g.46173A=
NG_023245.1:g.15722T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1756T= MANE Select ENSP00000362344.2:p.Ser586=
ENST00000373225.7:c.1606T= ENSP00000362322.3:p.Ser536=
ENST00000373247.6:c.1756T= ENSP00000362344.2:p.Ser586=
ENST00000393706.6:c.1678T= ENSP00000377309.2:p.Ser560=
ENST00000460181.5:n.1744T=
ENST00000467826.5:n.709+273T=
ENST00000630236.2:c.*480T= ENSP00000486766.1:n.*480T=
NM_001018078.2:c.1606T= NP_001018088.1:p.Ser536=
NM_001288803.1:c.1678T= NP_001275732.1:p.Ser560=
NM_004957.5:c.1756T= NP_004948.4:p.Ser586=
NR_110170.1:n.1804T=
XM_005251864.2:c.1483+273T= XP_005251921.1:n.1483+273T=
XM_011518437.1:c.1606T= XP_011516739.1:p.Ser536=
XM_011518438.1:c.1606T= XP_011516740.1:p.Ser536=
XM_011518439.1:c.913T= XP_011516741.1:p.Ser305=
XR_242581.2:n.1653T=
XR_242582.2:n.1380+273T=
XM_005251864.4:c.1483+273T= XP_005251921.1:n.1483+273T=
XM_011518439.2:c.913T= XP_011516741.1:p.Ser305=
XM_017014565.2:c.1333+273T= XP_016870054.1:n.1333+273T=
XM_017014566.1:c.913T= XP_016870055.1:p.Ser305=
XR_242581.4:n.1651T=
XR_242582.4:n.1378+273T=
NM_004957.6:c.1756T= MANE Select NP_004948.4:p.Ser586=