Canonical Allele Identifier: CA3945896

Gene: PDSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107154670C>T , CM000668.2:g.107154670C>T	GRCh38
NC_000006.11:g.107475874C>T , CM000668.1:g.107475874C>T	GRCh37
NC_000006.10:g.107582567C>T	NCBI36
NG_013033.1:g.309906G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020381.4:c.1149G>A MANE Select	NP_065114.3:p.Glu383=
ENST00000369037.9:c.1149G>A MANE Select	ENSP00000358033.4:p.Glu383=
NM_020381.3:c.1149G>A	NP_065114.3:p.Glu383=
ENST00000369037.8:c.1149G>A	ENSP00000358033.4:p.Glu383=
XM_011535956.1:c.1347G>A	XP_011534258.1:p.Glu449=
XM_011535956.3:c.1347G>A	XP_011534258.1:p.Glu449=
XM_011535957.1:c.1215G>A	XP_011534259.1:p.Glu405=
XM_011535957.3:c.1215G>A	XP_011534259.1:p.Glu405=
XM_011535958.1:c.1212G>A	XP_011534260.1:p.Glu404=
XM_011535958.3:c.1212G>A	XP_011534260.1:p.Glu404=
XM_011535959.1:c.1017G>A	XP_011534261.1:p.Glu339=
XM_011535959.3:c.1017G>A	XP_011534261.1:p.Glu339=
XM_011535960.1:c.939G>A	XP_011534262.1:p.Glu313=
XM_011535960.3:c.939G>A	XP_011534262.1:p.Glu313=
XM_011535961.1:c.843G>A	XP_011534263.1:p.Glu281=
XM_011535961.3:c.843G>A	XP_011534263.1:p.Glu281=
XM_011535962.1:c.741G>A	XP_011534264.1:p.Glu247=
XM_011535962.2:c.741G>A	XP_011534264.1:p.Glu247=