Canonical Allele Identifier: CA5252510

Gene: FPGS

Linked Data

• dbSNP Id: rs768617104
• ExAC: 9:130575652 T / C
• gnomAD v2: 9-130575652-T-C
• gnomAD v3: 9-127813373-T-C
• gnomAD v4: 9-127813373-T-C
• MyVariant Identifiers: chr9:g.130575652T>C (hg19) ; chr9:g.127813373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813373T>C , CM000671.2:g.127813373T>C	GRCh38
NC_000009.11:g.130575652T>C , CM000671.1:g.130575652T>C	GRCh37
NC_000009.10:g.129615473T>C	NCBI36
NG_009551.1:g.46396A>G , LRG_589:g.46396A>G
NG_023245.1:g.15499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1533T>C MANE Select	ENSP00000362344.2:p.Ser511=
ENST00000373225.7:c.1383T>C	ENSP00000362322.3:p.Ser461=
ENST00000373228.5:c.*190T>C	ENSP00000362325.1:n.*190T>C
ENST00000373247.6:c.1533T>C	ENSP00000362344.2:p.Ser511=
ENST00000393706.6:c.1455T>C	ENSP00000377309.2:p.Ser485=
ENST00000460181.5:n.1521T>C
ENST00000467826.5:n.709+50T>C
ENST00000475270.1:n.359T>C
ENST00000630236.2:c.*257T>C	ENSP00000486766.1:n.*257T>C
NM_001018078.2:c.1383T>C	NP_001018088.1:p.Ser461=
NM_001288803.1:c.1455T>C	NP_001275732.1:p.Ser485=
NM_004957.5:c.1533T>C	NP_004948.4:p.Ser511=
NR_110170.1:n.1581T>C
XM_005251864.2:c.1483+50T>C	XP_005251921.1:n.1483+50T>C
XM_011518437.1:c.1383T>C	XP_011516739.1:p.Ser461=
XM_011518438.1:c.1383T>C	XP_011516740.1:p.Ser461=
XM_011518439.1:c.690T>C	XP_011516741.1:p.Ser230=
XR_242581.2:n.1430T>C
XR_242582.2:n.1380+50T>C
XM_005251864.4:c.1483+50T>C	XP_005251921.1:n.1483+50T>C
XM_011518439.2:c.690T>C	XP_011516741.1:p.Ser230=
XM_017014565.2:c.1333+50T>C	XP_016870054.1:n.1333+50T>C
XM_017014566.1:c.690T>C	XP_016870055.1:p.Ser230=
XR_242581.4:n.1428T>C
XR_242582.4:n.1378+50T>C
NM_004957.6:c.1533T>C MANE Select	NP_004948.4:p.Ser511=