Canonical Allele Identifier: CA200283068

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127802988A>T , CM000671.2:g.127802988A>T	GRCh38
NC_000009.11:g.130565267A>T , CM000671.1:g.130565267A>T	GRCh37
NC_000009.10:g.129605088A>T	NCBI36
NG_023245.1:g.5114A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004957.6:c.64A>T MANE Select	NP_004948.4:p.Ile22Leu
ENST00000373247.7:c.64A>T MANE Select	ENSP00000362344.2:p.Ile22Leu
NM_001288803.1:c.64A>T	NP_001275732.1:p.Ile22Leu
NM_004957.5:c.64A>T	NP_004948.4:p.Ile22Leu
NR_110170.1:n.131A>T
ENST00000373228.5:c.64A>T	ENSP00000362325.1:p.Ile22Leu
ENST00000373247.6:c.64A>T	ENSP00000362344.2:p.Ile22Leu
ENST00000393706.6:c.64A>T	ENSP00000377309.2:p.Ile22Leu
ENST00000460181.5:n.71A>T
ENST00000475765.5:n.57A>T
ENST00000479147.6:n.217-1297A>T
ENST00000479375.6:n.132-1297A>T
ENST00000481552.6:n.72A>T
ENST00000488307.5:n.96A>T
ENST00000630236.2:c.64A>T	ENSP00000486766.1:p.Ile22Leu
XM_005251864.2:c.64A>T	XP_005251921.1:p.Ile22Leu
XM_005251864.4:c.64A>T	XP_005251921.1:p.Ile22Leu
XM_017014566.1:c.-867A>T	XP_016870055.1:n.-867A>T
XR_242581.2:n.109A>T
XR_242581.4:n.107A>T
XR_242582.2:n.109A>T
XR_242582.4:n.107A>T