Canonical Allele Identifier: CA5252553

Gene: FPGS

Linked Data

• dbSNP Id: rs770819400
• ExAC: 9:130575904 T / G
• gnomAD v2: 9-130575904-T-G
• gnomAD v4: 9-127813625-T-G
• MyVariant Identifiers: chr9:g.130575904T>G (hg19) ; chr9:g.127813625T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813625T>G , CM000671.2:g.127813625T>G	GRCh38
NC_000009.11:g.130575904T>G , CM000671.1:g.130575904T>G	GRCh37
NC_000009.10:g.129615725T>G	NCBI36
NG_009551.1:g.46144A>C , LRG_589:g.46144A>C
NG_023245.1:g.15751T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*21T>G MANE Select	ENSP00000362344.2:n.*21T>G
ENST00000373225.7:c.*21T>G	ENSP00000362322.3:n.*21T>G
ENST00000373247.6:c.*21T>G	ENSP00000362344.2:n.*21T>G
ENST00000393706.6:c.*21T>G	ENSP00000377309.2:n.*21T>G
ENST00000460181.5:n.1773T>G
ENST00000467826.5:n.709+302T>G
ENST00000630236.2:c.*509T>G	ENSP00000486766.1:n.*509T>G
NM_001018078.2:c.*21T>G	NP_001018088.1:n.*21T>G
NM_001288803.1:c.*21T>G	NP_001275732.1:n.*21T>G
NM_004957.5:c.*21T>G	NP_004948.4:n.*21T>G
NR_110170.1:n.1833T>G
XM_005251864.2:c.1483+302T>G	XP_005251921.1:n.1483+302T>G
XM_011518437.1:c.*21T>G	XP_011516739.1:n.*21T>G
XM_011518438.1:c.*21T>G	XP_011516740.1:n.*21T>G
XM_011518439.1:c.*21T>G	XP_011516741.1:n.*21T>G
XR_242581.2:n.1682T>G
XR_242582.2:n.1380+302T>G
XM_005251864.4:c.1483+302T>G	XP_005251921.1:n.1483+302T>G
XM_011518439.2:c.*21T>G	XP_011516741.1:n.*21T>G
XM_017014565.2:c.1333+302T>G	XP_016870054.1:n.1333+302T>G
XM_017014566.1:c.*21T>G	XP_016870055.1:n.*21T>G
XR_242581.4:n.1680T>G
XR_242582.4:n.1378+302T>G
NM_004957.6:c.*21T>G MANE Select	NP_004948.4:n.*21T>G