Canonical Allele Identifier: CA1879977467
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813638C= , CM000671.2:g.127813638C= GRCh38
NC_000009.11:g.130575917C= , CM000671.1:g.130575917C= GRCh37
NC_000009.10:g.129615738C= NCBI36
NG_009551.1:g.46131G= , LRG_589:g.46131G=
NG_023245.1:g.15764C=

Transcript Alleles

HGVS Amino-acid change
ENST00000373247.7:c.*34C= MANE Select ENSP00000362344.2:n.*34C=
ENST00000373225.7:c.*34C= ENSP00000362322.3:n.*34C=
ENST00000373247.6:c.*34C= ENSP00000362344.2:n.*34C=
ENST00000393706.6:c.*34C= ENSP00000377309.2:n.*34C=
ENST00000460181.5:n.1786C=
ENST00000467826.5:n.709+315C=
ENST00000630236.2:c.*522C= ENSP00000486766.1:n.*522C=
NM_001018078.2:c.*34C= NP_001018088.1:n.*34C=
NM_001288803.1:c.*34C= NP_001275732.1:n.*34C=
NM_004957.5:c.*34C= NP_004948.4:n.*34C=
NR_110170.1:n.1846C=
XM_005251864.2:c.1483+315C= XP_005251921.1:n.1483+315C=
XM_011518437.1:c.*34C= XP_011516739.1:n.*34C=
XM_011518438.1:c.*34C= XP_011516740.1:n.*34C=
XM_011518439.1:c.*34C= XP_011516741.1:n.*34C=
XR_242581.2:n.1695C=
XR_242582.2:n.1380+315C=
XM_005251864.4:c.1483+315C= XP_005251921.1:n.1483+315C=
XM_011518439.2:c.*34C= XP_011516741.1:n.*34C=
XM_017014565.2:c.1333+315C= XP_016870054.1:n.1333+315C=
XM_017014566.1:c.*34C= XP_016870055.1:n.*34C=
XR_242581.4:n.1693C=
XR_242582.4:n.1378+315C=
NM_004957.6:c.*34C= MANE Select NP_004948.4:n.*34C=