Canonical Allele Identifier: CA2691804322

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813992-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813992G>C , CM000671.2:g.127813992G>C	GRCh38
NC_000009.11:g.130576271G>C , CM000671.1:g.130576271G>C	GRCh37
NC_000009.10:g.129616092G>C	NCBI36
NG_009551.1:g.45777C>G , LRG_589:g.45777C>G
NG_023245.1:g.16118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*388G>C MANE Select	ENSP00000362344.2:n.*388G>C
ENST00000373225.7:c.*388G>C	ENSP00000362322.3:n.*388G>C
ENST00000373247.6:c.*388G>C	ENSP00000362344.2:n.*388G>C
ENST00000393706.6:c.*388G>C	ENSP00000377309.2:n.*388G>C
ENST00000460181.5:n.2140G>C
ENST00000467826.5:n.710-216G>C
ENST00000630236.2:c.*876G>C	ENSP00000486766.1:n.*876G>C
NM_001018078.2:c.*388G>C	NP_001018088.1:n.*388G>C
NM_001288803.1:c.*388G>C	NP_001275732.1:n.*388G>C
NM_004957.5:c.*388G>C	NP_004948.4:n.*388G>C
NR_110170.1:n.2200G>C
XM_005251864.2:c.1484-216G>C	XP_005251921.1:n.1484-216G>C
XM_011518437.1:c.*388G>C	XP_011516739.1:n.*388G>C
XM_011518438.1:c.*388G>C	XP_011516740.1:n.*388G>C
XM_011518439.1:c.*388G>C	XP_011516741.1:n.*388G>C
XR_242581.2:n.2049G>C
XR_242582.2:n.1381-216G>C
XM_005251864.4:c.1484-216G>C	XP_005251921.1:n.1484-216G>C
XM_011518439.2:c.*388G>C	XP_011516741.1:n.*388G>C
XM_017014565.2:c.1334-216G>C	XP_016870054.1:n.1334-216G>C
XM_017014566.1:c.*388G>C	XP_016870055.1:n.*388G>C
XR_242581.4:n.2047G>C
XR_242582.4:n.1379-216G>C
NM_004957.6:c.*388G>C MANE Select	NP_004948.4:n.*388G>C