Canonical Allele Identifier: CA468481884

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26720293C>T , CM000672.2:g.26720293C>T	GRCh38
NC_000010.10:g.27009222C>T , CM000672.1:g.27009222C>T	GRCh37
NC_000010.9:g.27049228C>T	NCBI36
NG_008972.1:g.27628C>T
NG_008972.2:g.27628C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014317.5:c.543C>T MANE Select	NP_055132.2:p.Asp181=
ENST00000376215.10:c.543C>T MANE Select	ENSP00000365388.5:p.Asp181=
NM_001321978.1:c.543C>T	NP_001308907.1:p.Asp181=
NM_001321978.2:c.543C>T	NP_001308907.1:p.Asp181=
NM_001321979.1:c.33C>T	NP_001308908.1:p.Asp11=
NM_001321979.2:c.33C>T	NP_001308908.1:p.Asp11=
NM_014317.3:c.543C>T	NP_055132.2:p.Asp181=
NM_014317.4:c.543C>T	NP_055132.2:p.Asp181=
ENST00000376215.9:c.543C>T	ENSP00000365388.5:p.Asp181=
ENST00000473224.1:n.377C>T
XM_005252439.2:c.33C>T	XP_005252496.1:p.Asp11=
XM_011519437.1:c.174C>T	XP_011517739.1:p.Asp58=
XM_011519437.3:c.174C>T	XP_011517739.1:p.Asp58=
XM_017016011.2:c.222C>T	XP_016871500.1:p.Asp74=
XM_024447922.1:c.543C>T	XP_024303690.1:p.Asp181=
XM_024447923.1:c.33C>T	XP_024303691.1:p.Asp11=
XR_428636.2:n.831C>T
XR_428636.4:n.831C>T
XR_930486.1:n.831C>T