Canonical Allele Identifier: CA2579461135

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813656-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813656C>T , CM000671.2:g.127813656C>T	GRCh38
NC_000009.11:g.130575935C>T , CM000671.1:g.130575935C>T	GRCh37
NC_000009.10:g.129615756C>T	NCBI36
NG_009551.1:g.46113G>A , LRG_589:g.46113G>A
NG_023245.1:g.15782C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*52C>T MANE Select	ENSP00000362344.2:n.*52C>T
ENST00000373225.7:c.*52C>T	ENSP00000362322.3:n.*52C>T
ENST00000373247.6:c.*52C>T	ENSP00000362344.2:n.*52C>T
ENST00000393706.6:c.*52C>T	ENSP00000377309.2:n.*52C>T
ENST00000460181.5:n.1804C>T
ENST00000467826.5:n.709+333C>T
ENST00000630236.2:c.*540C>T	ENSP00000486766.1:n.*540C>T
NM_001018078.2:c.*52C>T	NP_001018088.1:n.*52C>T
NM_001288803.1:c.*52C>T	NP_001275732.1:n.*52C>T
NM_004957.5:c.*52C>T	NP_004948.4:n.*52C>T
NR_110170.1:n.1864C>T
XM_005251864.2:c.1483+333C>T	XP_005251921.1:n.1483+333C>T
XM_011518437.1:c.*52C>T	XP_011516739.1:n.*52C>T
XM_011518438.1:c.*52C>T	XP_011516740.1:n.*52C>T
XM_011518439.1:c.*52C>T	XP_011516741.1:n.*52C>T
XR_242581.2:n.1713C>T
XR_242582.2:n.1380+333C>T
XM_005251864.4:c.1483+333C>T	XP_005251921.1:n.1483+333C>T
XM_011518439.2:c.*52C>T	XP_011516741.1:n.*52C>T
XM_017014565.2:c.1333+333C>T	XP_016870054.1:n.1333+333C>T
XM_017014566.1:c.*52C>T	XP_016870055.1:n.*52C>T
XR_242581.4:n.1711C>T
XR_242582.4:n.1378+333C>T
NM_004957.6:c.*52C>T MANE Select	NP_004948.4:n.*52C>T