Canonical Allele Identifier: CA1879976854
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813325T= , CM000671.2:g.127813325T= GRCh38
NC_000009.11:g.130575604T= , CM000671.1:g.130575604T= GRCh37
NC_000009.10:g.129615425T= NCBI36
NG_009551.1:g.46444A= , LRG_589:g.46444A=
NG_023245.1:g.15451T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1485T= MANE Select ENSP00000362344.2:p.Gly495=
ENST00000373225.7:c.1335T= ENSP00000362322.3:p.Gly445=
ENST00000373228.5:c.*142T= ENSP00000362325.1:n.*142T=
ENST00000373247.6:c.1485T= ENSP00000362344.2:p.Gly495=
ENST00000393706.6:c.1407T= ENSP00000377309.2:p.Gly469=
ENST00000460181.5:n.1473T=
ENST00000467826.5:n.709+2T=
ENST00000475270.1:n.311T=
ENST00000630236.2:c.*209T= ENSP00000486766.1:n.*209T=
NM_001018078.2:c.1335T= NP_001018088.1:p.Gly445=
NM_001288803.1:c.1407T= NP_001275732.1:p.Gly469=
NM_004957.5:c.1485T= NP_004948.4:p.Gly495=
NR_110170.1:n.1533T=
XM_005251864.2:c.1483+2T= XP_005251921.1:n.1483+2T=
XM_011518437.1:c.1335T= XP_011516739.1:p.Gly445=
XM_011518438.1:c.1335T= XP_011516740.1:p.Gly445=
XM_011518439.1:c.642T= XP_011516741.1:p.Gly214=
XR_242581.2:n.1382T=
XR_242582.2:n.1380+2T=
XM_005251864.4:c.1483+2T= XP_005251921.1:n.1483+2T=
XM_011518439.2:c.642T= XP_011516741.1:p.Gly214=
XM_017014565.2:c.1333+2T= XP_016870054.1:n.1333+2T=
XM_017014566.1:c.642T= XP_016870055.1:p.Gly214=
XR_242581.4:n.1380T=
XR_242582.4:n.1378+2T=
NM_004957.6:c.1485T= MANE Select NP_004948.4:p.Gly495=