Canonical Allele Identifier: CA374940721

Gene: FPGS

Genomic Alleles

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

Transcript Alleles

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