Canonical Allele Identifier: CA1879977068
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813405A= , CM000671.2:g.127813405A= GRCh38
NC_000009.11:g.130575684A= , CM000671.1:g.130575684A= GRCh37
NC_000009.10:g.129615505A= NCBI36
NG_009551.1:g.46364T= , LRG_589:g.46364T=
NG_023245.1:g.15531A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1565A= MANE Select ENSP00000362344.2:p.His522=
ENST00000373225.7:c.1415A= ENSP00000362322.3:p.His472=
ENST00000373228.5:c.*222A= ENSP00000362325.1:n.*222A=
ENST00000373247.6:c.1565A= ENSP00000362344.2:p.His522=
ENST00000393706.6:c.1487A= ENSP00000377309.2:p.His496=
ENST00000460181.5:n.1553A=
ENST00000467826.5:n.709+82A=
ENST00000475270.1:n.391A=
ENST00000630236.2:c.*289A= ENSP00000486766.1:n.*289A=
NM_001018078.2:c.1415A= NP_001018088.1:p.His472=
NM_001288803.1:c.1487A= NP_001275732.1:p.His496=
NM_004957.5:c.1565A= NP_004948.4:p.His522=
NR_110170.1:n.1613A=
XM_005251864.2:c.1483+82A= XP_005251921.1:n.1483+82A=
XM_011518437.1:c.1415A= XP_011516739.1:p.His472=
XM_011518438.1:c.1415A= XP_011516740.1:p.His472=
XM_011518439.1:c.722A= XP_011516741.1:p.His241=
XR_242581.2:n.1462A=
XR_242582.2:n.1380+82A=
XM_005251864.4:c.1483+82A= XP_005251921.1:n.1483+82A=
XM_011518439.2:c.722A= XP_011516741.1:p.His241=
XM_017014565.2:c.1333+82A= XP_016870054.1:n.1333+82A=
XM_017014566.1:c.722A= XP_016870055.1:p.His241=
XR_242581.4:n.1460A=
XR_242582.4:n.1378+82A=
NM_004957.6:c.1565A= MANE Select NP_004948.4:p.His522=