Canonical Allele Identifier: CA16044188

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26746333A>C , CM000672.2:g.26746333A>C	GRCh38
NC_000010.10:g.27035262A>C , CM000672.1:g.27035262A>C	GRCh37
NC_000010.9:g.27075268A>C	NCBI36
NG_008972.1:g.53668A>C
NG_030025.1:g.119755T>G
NG_008972.2:g.53668A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014317.5:c.1108A>C MANE Select	NP_055132.2:p.Ser370Arg
ENST00000376215.10:c.1108A>C MANE Select	ENSP00000365388.5:p.Ser370Arg
NM_001321978.1:c.917A>C	NP_001308907.1:p.Glu306Ala
NM_001321978.2:c.917A>C	NP_001308907.1:p.Glu306Ala
NM_001321979.1:c.598A>C	NP_001308908.1:p.Ser200Arg
NM_001321979.2:c.598A>C	NP_001308908.1:p.Ser200Arg
NM_014317.3:c.1108A>C	NP_055132.2:p.Ser370Arg
NM_014317.4:c.1108A>C	NP_055132.2:p.Ser370Arg
ENST00000376215.9:c.1108A>C	ENSP00000365388.5:p.Ser370Arg
ENST00000470978.1:n.350A>C
ENST00000491711.5:c.689A>C
XM_005252439.2:c.598A>C	XP_005252496.1:p.Ser200Arg
XM_011519437.1:c.739A>C	XP_011517739.1:p.Ser247Arg
XM_011519437.3:c.739A>C	XP_011517739.1:p.Ser247Arg
XM_017016011.2:c.787A>C	XP_016871500.1:p.Ser263Arg
XM_024447923.1:c.598A>C	XP_024303691.1:p.Ser200Arg
XR_428636.2:n.1400A>C
XR_428636.4:n.1400A>C