Canonical Allele Identifier: CA1879977074

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813407G= , CM000671.2:g.127813407G=	GRCh38
NC_000009.11:g.130575686G= , CM000671.1:g.130575686G=	GRCh37
NC_000009.10:g.129615507G=	NCBI36
NG_009551.1:g.46362C= , LRG_589:g.46362C=
NG_023245.1:g.15533G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1567G= MANE Select	ENSP00000362344.2:p.Ala523=
ENST00000373225.7:c.1417G=	ENSP00000362322.3:p.Ala473=
ENST00000373228.5:c.*224G=	ENSP00000362325.1:n.*224G=
ENST00000373247.6:c.1567G=	ENSP00000362344.2:p.Ala523=
ENST00000393706.6:c.1489G=	ENSP00000377309.2:p.Ala497=
ENST00000460181.5:n.1555G=
ENST00000467826.5:n.709+84G=
ENST00000475270.1:n.393G=
ENST00000630236.2:c.*291G=	ENSP00000486766.1:n.*291G=
NM_001018078.2:c.1417G=	NP_001018088.1:p.Ala473=
NM_001288803.1:c.1489G=	NP_001275732.1:p.Ala497=
NM_004957.5:c.1567G=	NP_004948.4:p.Ala523=
NR_110170.1:n.1615G=
XM_005251864.2:c.1483+84G=	XP_005251921.1:n.1483+84G=
XM_011518437.1:c.1417G=	XP_011516739.1:p.Ala473=
XM_011518438.1:c.1417G=	XP_011516740.1:p.Ala473=
XM_011518439.1:c.724G=	XP_011516741.1:p.Ala242=
XR_242581.2:n.1464G=
XR_242582.2:n.1380+84G=
XM_005251864.4:c.1483+84G=	XP_005251921.1:n.1483+84G=
XM_011518439.2:c.724G=	XP_011516741.1:p.Ala242=
XM_017014565.2:c.1333+84G=	XP_016870054.1:n.1333+84G=
XM_017014566.1:c.724G=	XP_016870055.1:p.Ala242=
XR_242581.4:n.1462G=
XR_242582.4:n.1378+84G=
NM_004957.6:c.1567G= MANE Select	NP_004948.4:p.Ala523=