Canonical Allele Identifier: CA1144560

Gene: FDPS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155309931C>T , CM000663.2:g.155309931C>T	GRCh38
NC_000001.10:g.155279722C>T , CM000663.1:g.155279722C>T	GRCh37
NC_000001.9:g.153546346C>T	NCBI36
NG_045218.1:g.6184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368356.9:c.142C>T MANE Select	ENSP00000357340.4:p.Arg48Cys
ENST00000356657.10:c.142C>T	ENSP00000349078.6:p.Arg48Cys
ENST00000368356.8:c.142C>T	ENSP00000357340.4:p.Arg48Cys
ENST00000447866.5:c.-22-112C>T	ENSP00000391755.1:n.-22-112C>T
ENST00000461507.5:n.164-133C>T
ENST00000465559.5:c.142C>T	ENSP00000484099.1:p.Arg48Cys
ENST00000467076.5:c.-1-133C>T	ENSP00000480142.1:n.-1-133C>T
ENST00000468479.5:n.212-133C>T
ENST00000470171.5:n.110-133C>T
ENST00000471117.5:n.103+966C>T
ENST00000474345.5:c.-1-133C>T	ENSP00000478032.1:n.-1-133C>T
ENST00000477057.5:n.93-133C>T
ENST00000487002.1:n.1018C>T
ENST00000489003.5:n.94-133C>T
ENST00000491013.5:c.142C>T	ENSP00000479557.1:p.Arg48Cys
ENST00000495308.5:n.74-112C>T
ENST00000611010.4:c.-175+966C>T	ENSP00000483188.1:n.-175+966C>T
ENST00000612683.1:c.-1-133C>T	ENSP00000478235.1:n.-1-133C>T
NM_001135821.1:c.142C>T	NP_001129293.1:p.Arg48Cys
NM_001135822.1:c.-1-133C>T	NP_001129294.1:n.-1-133C>T
NM_001242824.1:c.-22-112C>T	NP_001229753.1:n.-22-112C>T
NM_001242825.1:c.-175+966C>T	NP_001229754.1:n.-175+966C>T
NM_002004.3:c.142C>T	NP_001995.1:p.Arg48Cys
XM_005244962.1:c.-1-133C>T	XP_005245019.1:n.-1-133C>T
XM_005244963.1:c.-22-112C>T	XP_005245020.1:n.-22-112C>T
XM_024454066.1:c.142C>T	XP_024309834.1:p.Arg48Cys
XM_024454070.1:c.142C>T	XP_024309838.1:p.Arg48Cys
XM_024454071.1:c.-22-112C>T	XP_024309839.1:n.-22-112C>T
XM_024454072.1:c.-1-133C>T	XP_024309840.1:n.-1-133C>T
XM_024454073.1:c.-22-112C>T	XP_024309841.1:n.-22-112C>T
XM_024454074.1:c.-1-133C>T	XP_024309842.1:n.-1-133C>T
XM_024454076.1:c.-175+966C>T	XP_024309844.1:n.-175+966C>T
NM_001135821.2:c.142C>T	NP_001129293.1:p.Arg48Cys
NM_001135822.2:c.-1-133C>T	NP_001129294.1:n.-1-133C>T
NM_001242824.2:c.-22-112C>T	NP_001229753.1:n.-22-112C>T
NM_002004.4:c.142C>T MANE Select	NP_001995.1:p.Arg48Cys
NM_001242825.2:c.-175+966C>T	NP_001229754.1:n.-175+966C>T
NM_001378424.1:c.-1-133C>T	NP_001365353.1:n.-1-133C>T
NM_001378425.1:c.-22-112C>T	NP_001365354.1:n.-22-112C>T