Canonical Allele Identifier: CA5252503
Gene: FPGS HGNC NCBI

Linked Data

ClinVar Variation Id: 2374951
ClinVar RCV Id: RCV004213072
dbSNP Id: rs552129194

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813347G>A , CM000671.2:g.127813347G>A GRCh38
NC_000009.11:g.130575626G>A , CM000671.1:g.130575626G>A GRCh37
NC_000009.10:g.129615447G>A NCBI36
NG_009551.1:g.46422C>T , LRG_589:g.46422C>T
NG_023245.1:g.15473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1507G>A MANE Select ENSP00000362344.2:p.Ala503Thr
ENST00000373225.7:c.1357G>A ENSP00000362322.3:p.Ala453Thr
ENST00000373228.5:c.*164G>A ENSP00000362325.1:n.*164G>A
ENST00000373247.6:c.1507G>A ENSP00000362344.2:p.Ala503Thr
ENST00000393706.6:c.1429G>A ENSP00000377309.2:p.Ala477Thr
ENST00000460181.5:n.1495G>A
ENST00000467826.5:n.709+24G>A
ENST00000475270.1:n.333G>A
ENST00000630236.2:c.*231G>A ENSP00000486766.1:n.*231G>A
NM_001018078.2:c.1357G>A NP_001018088.1:p.Ala453Thr
NM_001288803.1:c.1429G>A NP_001275732.1:p.Ala477Thr
NM_004957.5:c.1507G>A NP_004948.4:p.Ala503Thr
NR_110170.1:n.1555G>A
XM_005251864.2:c.1483+24G>A XP_005251921.1:n.1483+24G>A
XM_011518437.1:c.1357G>A XP_011516739.1:p.Ala453Thr
XM_011518438.1:c.1357G>A XP_011516740.1:p.Ala453Thr
XM_011518439.1:c.664G>A XP_011516741.1:p.Ala222Thr
XR_242581.2:n.1404G>A
XR_242582.2:n.1380+24G>A
XM_005251864.4:c.1483+24G>A XP_005251921.1:n.1483+24G>A
XM_011518439.2:c.664G>A XP_011516741.1:p.Ala222Thr
XM_017014565.2:c.1333+24G>A XP_016870054.1:n.1333+24G>A
XM_017014566.1:c.664G>A XP_016870055.1:p.Ala222Thr
XR_242581.4:n.1402G>A
XR_242582.4:n.1378+24G>A
NM_004957.6:c.1507G>A MANE Select NP_004948.4:p.Ala503Thr