Canonical Allele Identifier: CA200297009

Gene: FPGS

Linked Data

• dbSNP Id: rs1002170832
• gnomAD v2: 9-130575792-G-A
• gnomAD v3: 9-127813513-G-A
• gnomAD v4: 9-127813513-G-A
• MyVariant Identifiers: chr9:g.130575792G>A (hg19) ; chr9:g.127813513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813513G>A , CM000671.2:g.127813513G>A	GRCh38
NC_000009.11:g.130575792G>A , CM000671.1:g.130575792G>A	GRCh37
NC_000009.10:g.129615613G>A	NCBI36
NG_009551.1:g.46256C>T , LRG_589:g.46256C>T
NG_023245.1:g.15639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1673G>A MANE Select	ENSP00000362344.2:p.Arg558His
ENST00000373225.7:c.1523G>A	ENSP00000362322.3:p.Arg508His
ENST00000373247.6:c.1673G>A	ENSP00000362344.2:p.Arg558His
ENST00000393706.6:c.1595G>A	ENSP00000377309.2:p.Arg532His
ENST00000460181.5:n.1661G>A
ENST00000467826.5:n.709+190G>A
ENST00000475270.1:n.499G>A
ENST00000630236.2:c.*397G>A	ENSP00000486766.1:n.*397G>A
NM_001018078.2:c.1523G>A	NP_001018088.1:p.Arg508His
NM_001288803.1:c.1595G>A	NP_001275732.1:p.Arg532His
NM_004957.5:c.1673G>A	NP_004948.4:p.Arg558His
NR_110170.1:n.1721G>A
XM_005251864.2:c.1483+190G>A	XP_005251921.1:n.1483+190G>A
XM_011518437.1:c.1523G>A	XP_011516739.1:p.Arg508His
XM_011518438.1:c.1523G>A	XP_011516740.1:p.Arg508His
XM_011518439.1:c.830G>A	XP_011516741.1:p.Arg277His
XR_242581.2:n.1570G>A
XR_242582.2:n.1380+190G>A
XM_005251864.4:c.1483+190G>A	XP_005251921.1:n.1483+190G>A
XM_011518439.2:c.830G>A	XP_011516741.1:p.Arg277His
XM_017014565.2:c.1333+190G>A	XP_016870054.1:n.1333+190G>A
XM_017014566.1:c.830G>A	XP_016870055.1:p.Arg277His
XR_242581.4:n.1568G>A
XR_242582.4:n.1378+190G>A
NM_004957.6:c.1673G>A MANE Select	NP_004948.4:p.Arg558His