Canonical Allele Identifier: CA5252496

Gene: FPGS

Linked Data

• ClinVar Variation Id: 2353755
• ClinVar RCV Id: RCV004197149
• dbSNP Id: rs750428981
• ExAC: 9:130575611 G / A
• gnomAD v2: 9-130575611-G-A
• gnomAD v3: 9-127813332-G-A
• gnomAD v4: 9-127813332-G-A
• MyVariant Identifiers: chr9:g.130575611G>A (hg19) ; chr9:g.127813332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813332G>A , CM000671.2:g.127813332G>A	GRCh38
NC_000009.11:g.130575611G>A , CM000671.1:g.130575611G>A	GRCh37
NC_000009.10:g.129615432G>A	NCBI36
NG_009551.1:g.46437C>T , LRG_589:g.46437C>T
NG_023245.1:g.15458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1492G>A MANE Select	ENSP00000362344.2:p.Ala498Thr
ENST00000373225.7:c.1342G>A	ENSP00000362322.3:p.Ala448Thr
ENST00000373228.5:c.*149G>A	ENSP00000362325.1:n.*149G>A
ENST00000373247.6:c.1492G>A	ENSP00000362344.2:p.Ala498Thr
ENST00000393706.6:c.1414G>A	ENSP00000377309.2:p.Ala472Thr
ENST00000460181.5:n.1480G>A
ENST00000467826.5:n.709+9G>A
ENST00000475270.1:n.318G>A
ENST00000630236.2:c.*216G>A	ENSP00000486766.1:n.*216G>A
NM_001018078.2:c.1342G>A	NP_001018088.1:p.Ala448Thr
NM_001288803.1:c.1414G>A	NP_001275732.1:p.Ala472Thr
NM_004957.5:c.1492G>A	NP_004948.4:p.Ala498Thr
NR_110170.1:n.1540G>A
XM_005251864.2:c.1483+9G>A	XP_005251921.1:n.1483+9G>A
XM_011518437.1:c.1342G>A	XP_011516739.1:p.Ala448Thr
XM_011518438.1:c.1342G>A	XP_011516740.1:p.Ala448Thr
XM_011518439.1:c.649G>A	XP_011516741.1:p.Ala217Thr
XR_242581.2:n.1389G>A
XR_242582.2:n.1380+9G>A
XM_005251864.4:c.1483+9G>A	XP_005251921.1:n.1483+9G>A
XM_011518439.2:c.649G>A	XP_011516741.1:p.Ala217Thr
XM_017014565.2:c.1333+9G>A	XP_016870054.1:n.1333+9G>A
XM_017014566.1:c.649G>A	XP_016870055.1:p.Ala217Thr
XR_242581.4:n.1387G>A
XR_242582.4:n.1378+9G>A
NM_004957.6:c.1492G>A MANE Select	NP_004948.4:p.Ala498Thr