Canonical Allele Identifier: CA2691804009

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813767-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813767A>C , CM000671.2:g.127813767A>C	GRCh38
NC_000009.11:g.130576046A>C , CM000671.1:g.130576046A>C	GRCh37
NC_000009.10:g.129615867A>C	NCBI36
NG_009551.1:g.46002T>G , LRG_589:g.46002T>G
NG_023245.1:g.15893A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*163A>C MANE Select	ENSP00000362344.2:n.*163A>C
ENST00000373225.7:c.*163A>C	ENSP00000362322.3:n.*163A>C
ENST00000373247.6:c.*163A>C	ENSP00000362344.2:n.*163A>C
ENST00000393706.6:c.*163A>C	ENSP00000377309.2:n.*163A>C
ENST00000460181.5:n.1915A>C
ENST00000467826.5:n.710-441A>C
ENST00000630236.2:c.*651A>C	ENSP00000486766.1:n.*651A>C
NM_001018078.2:c.*163A>C	NP_001018088.1:n.*163A>C
NM_001288803.1:c.*163A>C	NP_001275732.1:n.*163A>C
NM_004957.5:c.*163A>C	NP_004948.4:n.*163A>C
NR_110170.1:n.1975A>C
XM_005251864.2:c.1484-441A>C	XP_005251921.1:n.1484-441A>C
XM_011518437.1:c.*163A>C	XP_011516739.1:n.*163A>C
XM_011518438.1:c.*163A>C	XP_011516740.1:n.*163A>C
XM_011518439.1:c.*163A>C	XP_011516741.1:n.*163A>C
XR_242581.2:n.1824A>C
XR_242582.2:n.1381-441A>C
XM_005251864.4:c.1484-441A>C	XP_005251921.1:n.1484-441A>C
XM_011518439.2:c.*163A>C	XP_011516741.1:n.*163A>C
XM_017014565.2:c.1334-441A>C	XP_016870054.1:n.1334-441A>C
XM_017014566.1:c.*163A>C	XP_016870055.1:n.*163A>C
XR_242581.4:n.1822A>C
XR_242582.4:n.1379-441A>C
NM_004957.6:c.*163A>C MANE Select	NP_004948.4:n.*163A>C