Canonical Allele Identifier: CA2691804001

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813758-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813758T>C , CM000671.2:g.127813758T>C	GRCh38
NC_000009.11:g.130576037T>C , CM000671.1:g.130576037T>C	GRCh37
NC_000009.10:g.129615858T>C	NCBI36
NG_009551.1:g.46011A>G , LRG_589:g.46011A>G
NG_023245.1:g.15884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*154T>C MANE Select	ENSP00000362344.2:n.*154T>C
ENST00000373225.7:c.*154T>C	ENSP00000362322.3:n.*154T>C
ENST00000373247.6:c.*154T>C	ENSP00000362344.2:n.*154T>C
ENST00000393706.6:c.*154T>C	ENSP00000377309.2:n.*154T>C
ENST00000460181.5:n.1906T>C
ENST00000467826.5:n.709+435T>C
ENST00000630236.2:c.*642T>C	ENSP00000486766.1:n.*642T>C
NM_001018078.2:c.*154T>C	NP_001018088.1:n.*154T>C
NM_001288803.1:c.*154T>C	NP_001275732.1:n.*154T>C
NM_004957.5:c.*154T>C	NP_004948.4:n.*154T>C
NR_110170.1:n.1966T>C
XM_005251864.2:c.1483+435T>C	XP_005251921.1:n.1483+435T>C
XM_011518437.1:c.*154T>C	XP_011516739.1:n.*154T>C
XM_011518438.1:c.*154T>C	XP_011516740.1:n.*154T>C
XM_011518439.1:c.*154T>C	XP_011516741.1:n.*154T>C
XR_242581.2:n.1815T>C
XR_242582.2:n.1380+435T>C
XM_005251864.4:c.1483+435T>C	XP_005251921.1:n.1483+435T>C
XM_011518439.2:c.*154T>C	XP_011516741.1:n.*154T>C
XM_017014565.2:c.1333+435T>C	XP_016870054.1:n.1333+435T>C
XM_017014566.1:c.*154T>C	XP_016870055.1:n.*154T>C
XR_242581.4:n.1813T>C
XR_242582.4:n.1378+435T>C
NM_004957.6:c.*154T>C MANE Select	NP_004948.4:n.*154T>C