Canonical Allele Identifier: CA2691803911

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813646-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813646T>A , CM000671.2:g.127813646T>A	GRCh38
NC_000009.11:g.130575925T>A , CM000671.1:g.130575925T>A	GRCh37
NC_000009.10:g.129615746T>A	NCBI36
NG_009551.1:g.46123A>T , LRG_589:g.46123A>T
NG_023245.1:g.15772T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*42T>A MANE Select	ENSP00000362344.2:n.*42T>A
ENST00000373225.7:c.*42T>A	ENSP00000362322.3:n.*42T>A
ENST00000373247.6:c.*42T>A	ENSP00000362344.2:n.*42T>A
ENST00000393706.6:c.*42T>A	ENSP00000377309.2:n.*42T>A
ENST00000460181.5:n.1794T>A
ENST00000467826.5:n.709+323T>A
ENST00000630236.2:c.*530T>A	ENSP00000486766.1:n.*530T>A
NM_001018078.2:c.*42T>A	NP_001018088.1:n.*42T>A
NM_001288803.1:c.*42T>A	NP_001275732.1:n.*42T>A
NM_004957.5:c.*42T>A	NP_004948.4:n.*42T>A
NR_110170.1:n.1854T>A
XM_005251864.2:c.1483+323T>A	XP_005251921.1:n.1483+323T>A
XM_011518437.1:c.*42T>A	XP_011516739.1:n.*42T>A
XM_011518438.1:c.*42T>A	XP_011516740.1:n.*42T>A
XM_011518439.1:c.*42T>A	XP_011516741.1:n.*42T>A
XR_242581.2:n.1703T>A
XR_242582.2:n.1380+323T>A
XM_005251864.4:c.1483+323T>A	XP_005251921.1:n.1483+323T>A
XM_011518439.2:c.*42T>A	XP_011516741.1:n.*42T>A
XM_017014565.2:c.1333+323T>A	XP_016870054.1:n.1333+323T>A
XM_017014566.1:c.*42T>A	XP_016870055.1:n.*42T>A
XR_242581.4:n.1701T>A
XR_242582.4:n.1378+323T>A
NM_004957.6:c.*42T>A MANE Select	NP_004948.4:n.*42T>A