Canonical Allele Identifier: CA2691804266

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813947-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813947C>A , CM000671.2:g.127813947C>A	GRCh38
NC_000009.11:g.130576226C>A , CM000671.1:g.130576226C>A	GRCh37
NC_000009.10:g.129616047C>A	NCBI36
NG_009551.1:g.45822G>T , LRG_589:g.45822G>T
NG_023245.1:g.16073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*343C>A MANE Select	ENSP00000362344.2:n.*343C>A
ENST00000373225.7:c.*343C>A	ENSP00000362322.3:n.*343C>A
ENST00000373247.6:c.*343C>A	ENSP00000362344.2:n.*343C>A
ENST00000393706.6:c.*343C>A	ENSP00000377309.2:n.*343C>A
ENST00000460181.5:n.2095C>A
ENST00000467826.5:n.710-261C>A
ENST00000630236.2:c.*831C>A	ENSP00000486766.1:n.*831C>A
NM_001018078.2:c.*343C>A	NP_001018088.1:n.*343C>A
NM_001288803.1:c.*343C>A	NP_001275732.1:n.*343C>A
NM_004957.5:c.*343C>A	NP_004948.4:n.*343C>A
NR_110170.1:n.2155C>A
XM_005251864.2:c.1484-261C>A	XP_005251921.1:n.1484-261C>A
XM_011518437.1:c.*343C>A	XP_011516739.1:n.*343C>A
XM_011518438.1:c.*343C>A	XP_011516740.1:n.*343C>A
XM_011518439.1:c.*343C>A	XP_011516741.1:n.*343C>A
XR_242581.2:n.2004C>A
XR_242582.2:n.1381-261C>A
XM_005251864.4:c.1484-261C>A	XP_005251921.1:n.1484-261C>A
XM_011518439.2:c.*343C>A	XP_011516741.1:n.*343C>A
XM_017014565.2:c.1334-261C>A	XP_016870054.1:n.1334-261C>A
XM_017014566.1:c.*343C>A	XP_016870055.1:n.*343C>A
XR_242581.4:n.2002C>A
XR_242582.4:n.1379-261C>A
NM_004957.6:c.*343C>A MANE Select	NP_004948.4:n.*343C>A