Canonical Allele Identifier: CA467474206

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813529-C-A
• MyVariant Identifiers: chr9:g.130575808C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813529C>A , CM000671.2:g.127813529C>A	GRCh38
NC_000009.11:g.130575808C>A , CM000671.1:g.130575808C>A	GRCh37
NC_000009.10:g.129615629C>A	NCBI36
NG_009551.1:g.46240G>T , LRG_589:g.46240G>T
NG_023245.1:g.15655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1689C>A MANE Select	ENSP00000362344.2:p.Ile563=
ENST00000373225.7:c.1539C>A	ENSP00000362322.3:p.Ile513=
ENST00000373247.6:c.1689C>A	ENSP00000362344.2:p.Ile563=
ENST00000393706.6:c.1611C>A	ENSP00000377309.2:p.Ile537=
ENST00000460181.5:n.1677C>A
ENST00000467826.5:n.709+206C>A
ENST00000475270.1:n.515C>A
ENST00000630236.2:c.*413C>A	ENSP00000486766.1:n.*413C>A
NM_001018078.2:c.1539C>A	NP_001018088.1:p.Ile513=
NM_001288803.1:c.1611C>A	NP_001275732.1:p.Ile537=
NM_004957.5:c.1689C>A	NP_004948.4:p.Ile563=
NR_110170.1:n.1737C>A
XM_005251864.2:c.1483+206C>A	XP_005251921.1:n.1483+206C>A
XM_011518437.1:c.1539C>A	XP_011516739.1:p.Ile513=
XM_011518438.1:c.1539C>A	XP_011516740.1:p.Ile513=
XM_011518439.1:c.846C>A	XP_011516741.1:p.Ile282=
XR_242581.2:n.1586C>A
XR_242582.2:n.1380+206C>A
XM_005251864.4:c.1483+206C>A	XP_005251921.1:n.1483+206C>A
XM_011518439.2:c.846C>A	XP_011516741.1:p.Ile282=
XM_017014565.2:c.1333+206C>A	XP_016870054.1:n.1333+206C>A
XM_017014566.1:c.846C>A	XP_016870055.1:p.Ile282=
XR_242581.4:n.1584C>A
XR_242582.4:n.1378+206C>A
NM_004957.6:c.1689C>A MANE Select	NP_004948.4:p.Ile563=